補⾜図1：エクソン領域における機能多型とeQTL P-value
縦軸は解析した細胞・組織，横軸は機能多型とそれらを有する遺伝⼦を⽰す．セル内の 数値は各多型のマイナーアリルが遺伝⼦発現に与える影響のスコア（normalized effect
-log10(P-value)
補⾜図2：スプライス部位における機能多型とeQTL P-value
縦軸は解析した細胞・組織，横軸は機能多型とそれらを有する遺伝⼦を⽰す．セル内の 数値は各多型のマイナーアリルが遺伝⼦発現に与える影響のスコア（normalized effect
size）を算出した際のP値である．灰⾊で⽰す“n.s.”は，遺伝⼦発現に対して統計学的に
有意な影響がみられなかったことを⽰す．
-log10(P-value)
-log10(P-value)
補⾜図4：エンハンサー領域における機能多型とeQTL P-value
縦軸は解析した細胞・組織，横軸は機能多型とそのターゲット遺伝⼦を⽰す．セル内の 数値は各多型のマイナーアリルが遺伝⼦発現に与える影響のスコア（normalized effect
size）を算出した際のP値である．灰⾊で⽰す“n.s.”は，遺伝⼦発現に対して統計学的に
有意な影響がみられなかったことを⽰す．
-log10(P-value)
106
補⾜表1：H3K27ac修飾エンリッチメント解析結果（promoter variants）
ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX3244984 K-562 Blood 81954 77/104 18510/36069 1.44273 3.00212
SRX627264 Lymphoblastoid cell line Blood 80283 74/104 17422/36069 1.47311 3.00212 SRX627271 Lymphoblastoid cell line Blood 67792 72/104 16781/36069 1.48804 2.85662
SRX4210954 786-O Kidney 53023 74/104 17531/36069 1.46395 2.85662
SRX735287 Th1 Cells Blood 71143 77/104 18650/36069 1.4319 2.85662
SRX735288 Th2 Cells Blood 75699 75/104 18027/36069 1.44291 2.76068
SRX5343533 LoVo Digestive tract 65748 76/104 18530/36069 1.42246 2.74852
SRX1142206 CD8-Positive T-Lymphocytes Blood 1091 14/104 1208/36069 4.01941 2.64663 SRX627260 Lymphoblastoid cell line Blood 70843 72/104 17134/36069 1.45739 2.64663
SRX1156502 MDA-MB-231 Breast 56976 75/104 18254/36069 1.42496 2.64663
SRX5343532 LoVo Digestive tract 68495 76/104 18706/36069 1.40907 2.64663
SRX4210955 786-O Kidney 59739 74/104 17992/36069 1.42644 2.64663
SRX5343528 LoVo Digestive tract 54055 74/104 18037/36069 1.42288 2.56367
SRX3236732 NCI-H1299 Lung 38918 72/104 17370/36069 1.43758 2.56367
DRX015412 RERF-LC-Ad2 Lung 51341 74/104 18180/36069 1.41169 2.56367
SRX1142207 CD8-Positive T-Lymphocytes Blood 1539 17/104 1876/36069 3.1428 2.4508
SRX5343529 LoVo Digestive tract 61968 75/104 18565/36069 1.40109 2.4508
SRX5343527 LoVo Digestive tract 56516 74/104 18366/36069 1.39739 2.44604
SRX2917383 HCT 116 Digestive tract 36512 69/104 16566/36069 1.44455 2.36117
SRX1142239 CD4-Positive T-Lymphocytes Blood 931 13/104 1194/36069 3.77607 2.36117
SRX1998094 MDA-MB-231 Breast 53548 73/104 18084/36069 1.4 2.35961
107
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX627270 Lymphoblastoid cell line Blood 69763 69/104 16924/36069 1.41399 2.25188
SRX1156503 MDA-MB-231 Breast 50939 72/104 18012/36069 1.38635 2.24266
SRX627226 Lymphoblastoid cell line Blood 57309 66/104 15964/36069 1.43385 2.15078 SRX627252 Lymphoblastoid cell line Blood 66027 69/104 16954/36069 1.41149 2.14502 SRX627263 Lymphoblastoid cell line Blood 63108 68/104 16664/36069 1.41524 2.14502 SRX627256 Lymphoblastoid cell line Blood 72339 69/104 16986/36069 1.40883 2.14502 SRX627262 Lymphoblastoid cell line Blood 76151 70/104 17352/36069 1.3991 2.14502 SRX627268 Lymphoblastoid cell line Blood 78285 70/104 17359/36069 1.39854 2.14502 SRX627267 Lymphoblastoid cell line Blood 69387 68/104 16705/36069 1.41177 2.14502
DRX015250 NCI-H1299 Lung 39261 71/104 17718/36069 1.38977 2.14502
SRX5343524 LoVo Digestive tract 53545 70/104 17388/36069 1.3962 2.14502
DRX015277 NCI-H1650 Lung 62864 74/104 18858/36069 1.36093 2.14478
DRX015286 NCI-H1703 Lung 29612 70/104 17412/36069 1.39428 2.14397
SRX5343530 LoVo Digestive tract 59056 72/104 18141/36069 1.37649 2.14294
SRX4615464 CLL Blood 2140 19/104 2548/36069 2.58616 2.11632
SRX4288389 Lymphoblastoid cell line Blood 52876 69/104 17131/36069 1.39691 2.04782 SRX627259 Lymphoblastoid cell line Blood 72497 69/104 17189/36069 1.39219 2.04782
SRX3236721 NCI-H1299 Lung 28673 67/104 16553/36069 1.40378 2.04782
SRX627247 Lymphoblastoid cell line Blood 72130 69/104 17234/36069 1.38856 2.04782 SRX1568630 Colorectal cancer Digestive tract 26285 69/104 17247/36069 1.38751 2.04782 SRX627258 Lymphoblastoid cell line Blood 79363 69/104 17267/36069 1.3859 2.04782
SRX683860 OCI-LY-3 Blood 62424 71/104 17972/36069 1.37013 2.04782
SRX3751774 402-91 Adipocyte 49781 71/104 17981/36069 1.36945 2.04782
SRX1142221 CD8-Positive T-Lymphocytes Blood 2744 22/104 3235/36069 2.35857 2.03773 SRX1142232 CD4-Positive T-Lymphocytes Blood 3667 26/104 4285/36069 2.10438 1.99813 SRX627223 Lymphoblastoid cell line Blood 50770 65/104 15910/36069 1.41692 1.9705 SRX2778372 Lymphoblastoid cell line Blood 33426 65/104 15976/36069 1.41106 1.96705 SRX1142193 CD4-Positive T-Lymphocytes Blood 974 12/104 1222/36069 3.40573 1.96705 SRX627248 Lymphoblastoid cell line Blood 64450 67/104 16580/36069 1.40149 1.96238 SRX627227 Lymphoblastoid cell line Blood 65809 67/104 16602/36069 1.39964 1.96238
（table continued on next page）
108
（continued from previous page）
ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX627240 GM19099 Blood 61654 67/104 16612/36069 1.39879 1.96238
SRX627245 Lymphoblastoid cell line Blood 66610 69/104 17303/36069 1.38302 1.96033
DRX013197 HeLa Uterus 74404 73/104 18764/36069 1.34927 1.96033
SRX2749126 786-O Kidney 56633 68/104 17045/36069 1.38361 1.96033
SRX1594215 786-O Kidney 37492 71/104 18088/36069 1.36135 1.9586
SRX1568633 Colorectal cancer Digestive tract 43841 74/104 19246/36069 1.3335 1.9586
SRX4096875 HCC3153 Breast 35320 71/104 18134/36069 1.35789 1.95761
SRX3751782 LP6 Adipocyte 52592 72/104 18549/36069 1.34621 1.95479
SRX3675858 HeLa Uterus 58080 71/104 18187/36069 1.35394 1.95479
SRX4096877 HCC3153 Breast 29175 70/104 17836/36069 1.36114 1.95379
SRX764542 Lymphoblastoid cell line Blood 50842 65/104 16107/36069 1.39959 1.87594 SRX1568618 Colorectal cancer cell lines Digestive tract 77337 73/104 18961/36069 1.33525 1.87594
SRX2749149 OS-RC-2 Kidney 60484 69/104 17501/36069 1.36737 1.87594
SRX4210957 786-O Kidney 38337 67/104 16872/36069 1.37724 1.87594
SRX3596437 NCI-H1299 Lung 32958 72/104 18608/36069 1.34194 1.87594
SRX212658 Monocytes-CD14+ Blood 95045 73/104 19023/36069 1.3309 1.87594
DRX015421 RERF-LC-KJ Lung 56348 70/104 17936/36069 1.35355 1.87594
SRX4096880 HCC3153 Breast 37165 71/104 18324/36069 1.34381 1.87528
SRX2946124 NCI-H1299 Lung 34578 69/104 17649/36069 1.35591 1.87105
SRX2578905 MDA-MB-231 Breast 28596 60/104 14600/36069 1.42528 1.82026
SRX627269 Lymphoblastoid cell line Blood 51196 63/104 15583/36069 1.40214 1.79435
109
（continued from previous page）
ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX356790 MS1 Blood 47484 66/104 16717/36069 1.36926 1.79166
SRX332679 MDA-MB-231 Breast 52254 70/104 18066/36069 1.34381 1.79166
SRX3596431 NCI-H1299 Lung 30495 71/104 18475/36069 1.33283 1.79166
SRX627251 Lymphoblastoid cell line Blood 65619 66/104 16747/36069 1.36681 1.79166
SRX1272780 HCT 116 Digestive tract 45991 68/104 17463/36069 1.35049 1.78777
SRX1136727 Melanoma Epidermis 57087 70/104 18191/36069 1.33457 1.78751
SRX356458 GM12878 Blood 47484 64/104 16088/36069 1.37968 1.71381
SRX2004257 Monocytes Blood 38111 64/104 16138/36069 1.37541 1.71381
SRX1142200 CD4-Positive T-Lymphocytes Blood 2616 19/104 2879/36069 2.28883 1.71381
SRX2194243 SUM 159PT Breast 37402 66/104 16770/36069 1.36493 1.71381
SRX627232 Lymphoblastoid cell line Blood 60727 65/104 16506/36069 1.36575 1.71381
SRX2004199 Monocytes Blood 50554 65/104 16515/36069 1.36501 1.71381
SRX825369 PANC-1 Pancreas 27576 67/104 17192/36069 1.3516 1.71381
SRX1594216 786-O Kidney 35218 68/104 17504/36069 1.34733 1.71381
SRX4096873 HCC3153 Breast 29790 69/104 17864/36069 1.33959 1.71381
SRX4080278 RWPE-1 Prostate 28666 69/104 17865/36069 1.33951 1.71381
SRX4080280 RWPE-1 Prostate 31845 70/104 18237/36069 1.33121 1.71381
SRX825364 Capan-1 Adipocyte 53457 70/104 18262/36069 1.32938 1.71381
SRX3244983 K-562 Blood 76076 70/104 18277/36069 1.32829 1.71381
SRX4288379 Lymphoblastoid cell line Blood 46624 69/104 17936/36069 1.33421 1.71381
DRX015340 NCI-H322 Lung 50435 68/104 17602/36069 1.33982 1.71381
SRX332678 MDA-MB-231 Breast 41128 70/104 18316/36069 1.32546 1.71381
SRX4096876 HCC3153 Breast 39389 70/104 18330/36069 1.32445 1.71381
DRX015304 NCI-H1975 Lung 52836 69/104 17989/36069 1.33028 1.71342
SRX356485 Lymphoblastoid cell line Blood 48623 62/104 15626/36069 1.37608 1.63272
SRX356791 MS1 Blood 45134 62/104 15636/36069 1.3752 1.63272
SRX627229 Lymphoblastoid cell line Blood 50046 63/104 15898/36069 1.37435 1.63272 SRX764584 Lymphoblastoid cell line Blood 50234 63/104 15932/36069 1.37142 1.63272 SRX356486 Lymphoblastoid cell line Blood 45876 63/104 15980/36069 1.3673 1.63272
SRX2695618 Pleomorphic sarcoma Others 2914 15/104 2095/36069 2.48318 1.63272
（table continued on next page）
110
（continued from previous page）
ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX627228 Lymphoblastoid cell line Blood 60820 64/104 16265/36069 1.36467 1.63272
SRX2004294 Monocytes Blood 41309 64/104 16276/36069 1.36374 1.63272
SRX627244 Lymphoblastoid cell line Blood 52030 64/104 16281/36069 1.36333 1.63272
SRX5549016 Synoviocytes Others 137241 74/104 19921/36069 1.28831 1.63272
SRX2026368 Bld@ Adult T-cell leukemia-lymphoma Blood 31916 65/104 16597/36069 1.35827 1.63272
SRX627254 Lymphoblastoid cell line Blood 57095 63/104 16049/36069 1.36142 1.63272
SRX2749132 786-O Kidney 51075 66/104 16999/36069 1.34655 1.63272
SRX3931084 MCF-7 Breast 25435 66/104 17014/36069 1.34536 1.63272
SRX1538781 HT-29 Digestive tract 43773 65/104 16705/36069 1.34948 1.63272
SRX627273 Lymphoblastoid cell line Blood 63472 64/104 16389/36069 1.35434 1.63272
SRX627257 Lymphoblastoid cell line Blood 77241 67/104 17332/36069 1.34069 1.63272
SRX470221 Macrophages Blood 45633 70/104 18385/36069 1.32049 1.63272
DRX015268 NCI-H1648 Lung 61625 70/104 18403/36069 1.3192 1.63272
SRX2731736 Foreskin Epidermis 43513 68/104 17749/36069 1.32873 1.63272
SRX4096874 HCC3153 Breast 32424 69/104 18109/36069 1.32146 1.63272
SRX2749133 786-O Kidney 58007 67/104 17417/36069 1.33414 1.63272
SRX1568622 Colorectal cancer cell lines Digestive tract 80038 72/104 19252/36069 1.29705 1.63169
DRX015376 PC-3 Lung 30656 67/104 17434/36069 1.33284 1.63169
SRX2009543 HCT 116 Digestive tract 40053 66/104 17106/36069 1.33812 1.63026
DRX015349 II-18 Lung 53599 68/104 17806/36069 1.32447 1.6274
SRX1156500 MDA-MB-231 Breast 55108 69/104 18166/36069 1.31732 1.62698
111
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX825405 CFPAC-1 Adipocyte 48226 70/104 18571/36069 1.30726 1.54549
SRX1156504 MDA-MB-231 Breast 53036 69/104 18211/36069 1.31406 1.54549
SRX470223 Macrophages Blood 46017 70/104 18628/36069 1.30326 1.54549
SRX1528527 HCC827 Lung 81534 68/104 17906/36069 1.31708 1.54549
SRX1997949 MCF 10A Breast 60142 68/104 17918/36069 1.31619 1.54549
SRX3591830 MOLM-13 Blood 44253 65/104 16912/36069 1.33297 1.54549
SRX3931028 MCF-7 Breast 27195 66/104 17247/36069 1.32718 1.54549
SRX3591829 MOLM-13 Blood 37450 64/104 16596/36069 1.33745 1.54549
SRX4096878 HCC3153 Breast 33446 69/104 18309/36069 1.30703 1.54549
SRX1142214 CD4-Positive T-Lymphocytes Blood 3863 25/104 4565/36069 1.89933 1.54527
SRX1002695 IOE11 Gonad 69542 70/104 18709/36069 1.29762 1.54311
SRX4288370 Lymphoblastoid cell line Blood 52675 70/104 18711/36069 1.29748 1.54311 SRX4288375 Lymphoblastoid cell line Blood 49195 66/104 17295/36069 1.3235 1.54311
SRX1136724 Melanoma Epidermis 50304 68/104 17996/36069 1.31049 1.54311
SRX1041803 Jurkat Blood 47602 67/104 17648/36069 1.31668 1.54311
SRX356462 GM12878 Blood 40510 58/104 14580/36069 1.37966 1.49874
SRX1142209 CD8-Positive T-Lymphocytes Blood 211 4/104 176/36069 7.88221 1.49298
SRX356457 GM12878 Blood 46003 61/104 15544/36069 1.36103 1.47582
SRX627250 Lymphoblastoid cell line Blood 52849 62/104 15929/36069 1.34991 1.46711 SRX764666 Lymphoblastoid cell line Blood 48734 62/104 15959/36069 1.34737 1.46521
SRX356504 GM12891 Blood 50665 62/104 15993/36069 1.34451 1.46264
SRX212657 Monocytes-CD14+ Blood 113304 73/104 19845/36069 1.27577 1.46264
SRX2749131 786-O Kidney 34677 63/104 16277/36069 1.34235 1.46264
SRX1568632 Colorectal cancer Digestive tract 52486 74/104 20298/36069 1.26438 1.46246
SRX2917384 HCT 116 Digestive tract 39793 62/104 16010/36069 1.34308 1.46189
SRX3733790 Hep G2 Liver 28783 63/104 16355/36069 1.33595 1.46108
SRX627230 Lymphoblastoid cell line Blood 55805 62/104 16047/36069 1.33998 1.46108
SRX2631830 RKO Digestive tract 25957 64/104 16679/36069 1.33079 1.46108
SRX3591831 MOLM-13 Blood 43995 65/104 17000/36069 1.32607 1.46108
SRX1568621 Colorectal cancer cell lines Digestive tract 83325 71/104 19156/36069 1.28545 1.46108
（table continued on next page）
112
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX683864 Toledo Blood 57680 63/104 16389/36069 1.33318 1.46108
SRX3734286 Mammary glands Breast 53159 66/104 17335/36069 1.32045 1.46108
SRX2778365 Lymphoblastoid cell line Blood 40607 65/104 17038/36069 1.32311 1.46108
SRX825370 PT45-P1 Pancreas 46220 63/104 16403/36069 1.33204 1.46108
SRX1733639 Macrophages Blood 71972 67/104 17688/36069 1.3137 1.46108
SRX5343525 LoVo Digestive tract 50634 65/104 17054/36069 1.32187 1.46108
SRX3931100 MCF-7 Breast 28089 66/104 17386/36069 1.31657 1.46108
SRX212660 Monocytes-CD14+ Blood 94569 72/104 19602/36069 1.27389 1.46108
SRX1443864 J82 Others 44733 67/104 17765/36069 1.30801 1.45904
SRX3931099 MCF-7 Breast 26939 65/104 17103/36069 1.31808 1.4589
SRX2004255 Monocytes Blood 53080 64/104 16773/36069 1.32334 1.4589
DRX015394 PC-9 Lung 57891 68/104 18169/36069 1.29801 1.45603
SRX825365 Capan-2 Adipocyte 46824 67/104 17822/36069 1.30382 1.45548
SRX850186 BT-549 Breast 38977 66/104 17484/36069 1.30919 1.45443
SRX2749140 786-O Kidney 48342 66/104 17485/36069 1.30912 1.45443
SRX1142220 CD4-Positive T-Lymphocytes Blood 2148 16/104 2435/36069 2.27888 1.44068
SRX2749129 786-O Kidney 29007 59/104 15167/36069 1.34913 1.38086
SRX212659 Monocytes-CD14+ Blood 116056 74/104 20404/36069 1.25782 1.3769
SRX627231 Lymphoblastoid cell line Blood 52244 61/104 15779/36069 1.34076 1.37582
SRX356503 GM12891 Blood 50579 61/104 15793/36069 1.33957 1.37469
SRX764624 Lymphoblastoid cell line Blood 51920 62/104 16151/36069 1.33135 1.37113
113
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX1795467 MCF-7 Breast 23774 66/104 17572/36069 1.30264 1.37109
SRX3751780 1765-92 Adipocyte 49072 67/104 17917/36069 1.29691 1.37109
SRX4288373 Lymphoblastoid cell line Blood 45368 67/104 17937/36069 1.29547 1.37081
SRX1997931 76NF2V Breast 78470 70/104 19042/36069 1.27493 1.37081
SRX5104307 T-47D Breast 29886 65/104 17291/36069 1.30375 1.36718
SRX2731735 Foreskin Epidermis 44947 68/104 18344/36069 1.28563 1.36709
SRX5343531 LoVo Digestive tract 48673 66/104 17651/36069 1.29681 1.3659
SRX1142199 CD8-Positive T-Lymphocytes Blood 4976 25/104 4806/36069 1.80409 1.34109
SRX2578903 MDA-MB-231 Breast 29746 57/104 14536/36069 1.35997 1.32514
SRX2771350 BICR 31 Others 2048 15/104 2292/36069 2.26975 1.32434
SRX2253243 B-Lymphocytes Blood 1646 7/104 672/36069 3.61268 1.32359
SRX1142211 CD8-Positive T-Lymphocytes Blood 2572 19/104 3351/36069 1.96644 1.30354 SRX764683 Lymphoblastoid cell line Blood 43693 59/104 15203/36069 1.34593 1.30321 SRX764637 Lymphoblastoid cell line Blood 43740 58/104 14967/36069 1.34398 1.30266
SRX356788 MS1 Blood 37406 59/104 15241/36069 1.34258 1.30149
SRX2733357 SP-49 Blood 31937 60/104 15566/36069 1.33683 1.2937
SRX764685 Lymphoblastoid cell line Blood 47952 59/104 15317/36069 1.33592 1.29353 SRX764574 Lymphoblastoid cell line Blood 48364 60/104 15637/36069 1.33076 1.28849 SRX764656 Lymphoblastoid cell line Blood 46899 60/104 15643/36069 1.33025 1.2884 SRX627234 Lymphoblastoid cell line Blood 50637 61/104 15932/36069 1.32788 1.28826
SRX356527 GM12892 Blood 48366 61/104 15953/36069 1.32614 1.28713
SRX764562 Lymphoblastoid cell line Blood 46248 61/104 15963/36069 1.32531 1.28713
SRX627217 GM18507 Blood 50257 60/104 15678/36069 1.32728 1.28713
SRX627241 GM19193 Blood 59787 61/104 15994/36069 1.32274 1.28713
SRX764557 Lymphoblastoid cell line Blood 42209 61/104 16000/36069 1.32224 1.28713
SRX356615 GM19099 Blood 51502 61/104 16007/36069 1.32166 1.28713
SRX356459 GM12878 Blood 47776 60/104 15720/36069 1.32373 1.28713
SRX2194246 SUM 159PT Breast 45565 62/104 16372/36069 1.31338 1.28713
SRX764602 Lymphoblastoid cell line Blood 49013 61/104 16068/36069 1.31665 1.28713
SRX2009542 HCT 116 Digestive tract 36648 64/104 16993/36069 1.3062 1.28713
（table continued on next page）
114
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX627219 Lymphoblastoid cell line Blood 54693 61/104 16073/36069 1.31624 1.28713 SRX356716 Lymphoblastoid cell line Blood 46814 61/104 16079/36069 1.31574 1.28713
SRX3931075 MCF-7 Breast 28723 65/104 17313/36069 1.30209 1.28713
SRX3931085 MCF-7 Breast 27641 65/104 17328/36069 1.30097 1.28713
SRX825400 CFPAC-1 Adipocyte 43558 68/104 18417/36069 1.28053 1.28713
DRX015403 RERF-LC-Ad1 Lung 54413 68/104 18427/36069 1.27984 1.28713
SRX3244987 K-562 Blood 64509 66/104 17717/36069 1.29198 1.28713
SRX825402 CFPAC-1 Adipocyte 46520 69/104 18825/36069 1.2712 1.28713
SRX825401 CFPAC-1 Adipocyte 43210 67/104 18109/36069 1.28316 1.28713
SRX825404 CFPAC-1 Adipocyte 36008 66/104 17760/36069 1.28885 1.28713
SRX2695616 Pleomorphic sarcoma Others 56168 68/104 18491/36069 1.27541 1.2863 SRX3734310 Mammary glands Breast 60013 66/104 17779/36069 1.28747 1.2863
SRX4210958 OS-RC-2 Kidney 58920 65/104 17462/36069 1.29098 1.28499
DRX015367 PC-14 Lung 34360 64/104 17130/36069 1.29576 1.28484
SRX1002705 IOE11 Gonad 44840 66/104 17823/36069 1.28429 1.28484
SRX1923326 Mutu Blood 44707 56/104 14330/36069 1.35532 1.25782
SRX1923327 Mutu Blood 58963 58/104 15080/36069 1.33391 1.23014
SRX2749125 4175-LM2 Breast 37872 58/104 15094/36069 1.33268 1.22928
SRX2548291 KK1 Blood 29041 57/104 14826/36069 1.33337 1.22839
SRX3591451 B-CLL cells Blood 23584 59/104 15422/36069 1.32682 1.2226
SRX764501 Lymphoblastoid cell line Blood 42941 60/104 15758/36069 1.32054 1.21514
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX627272 Lymphoblastoid cell line Blood 53048 60/104 15851/36069 1.31279 1.21303
SRX1795468 MCF-7 Breast 19772 62/104 16453/36069 1.30692 1.21017
SRX1286398 Treg Blood 3154 18/104 3223/36069 1.93693 1.21017
SRX2796725 786-O Kidney 51469 63/104 16858/36069 1.29609 1.21017
SRX627242 GM19239 Blood 57238 61/104 16237/36069 1.30294 1.21017
SRX1568613 Colorectal cancer cell lines Digestive tract 100830 69/104 18960/36069 1.26215 1.21017
DRX015259 NCI-H1437 Lung 46455 63/104 16881/36069 1.29432 1.21017
SRX4288386 Lymphoblastoid cell line Blood 46594 65/104 17491/36069 1.28884 1.21017
DRX015331 NCI-H2347 Lung 69686 69/104 18991/36069 1.26009 1.21017
SRX370342 Lymphoma, B-Cell Blood 34367 67/104 18219/36069 1.27541 1.21017
SRX825368 MIA Paca-2 Pancreas 29270 63/104 16903/36069 1.29264 1.21017
SRX212653 Monocytes-CD14+ Blood 44398 69/104 19004/36069 1.25923 1.21017
SRX370348 Lymphoma, B-Cell Blood 33554 66/104 17884/36069 1.27991 1.21017
SRX3244988 K-562 Blood 61972 65/104 17555/36069 1.28414 1.21017
SRX5765525 CD34 Hematopoietic stem cells Blood 29528 69/104 19011/36069 1.25877 1.21017
SRX1594201 MCF-7 Breast 33188 65/104 17574/36069 1.28275 1.20998
SRX1272792 HCT-15 Digestive tract 49011 66/104 17930/36069 1.27663 1.20889
SRX2731737 Foreskin Epidermis 42300 63/104 16938/36069 1.28997 1.20764
SRX1035329 MDA-MB-231 Breast 61216 66/104 17961/36069 1.27442 1.20764
SRX1538778 HT-29 Digestive tract 47268 64/104 17283/36069 1.28429 1.20764
SRX3545871 Bone marrow nuclear cells Blood 553 3/104 130/36069 8.00348 1.15144
SRX5291048 Mammary epithelial cells Breast 45277 56/104 14634/36069 1.32717 1.15009 SRX356751 Lymphoblastoid cell line Blood 50927 56/104 14637/36069 1.3269 1.14996
SRX2737858 MKN-7 Digestive tract 43861 57/104 14987/36069 1.31905 1.14016
SRX1142233 CD8-Positive T-Lymphocytes Blood 3871 23/104 4556/36069 1.75083 1.13866
SRX356564 GM18505 Blood 42978 59/104 15556/36069 1.31539 1.13634
SRX764530 Lymphoblastoid cell line Blood 43812 59/104 15573/36069 1.31395 1.13614 SRX764605 Lymphoblastoid cell line Blood 43011 58/104 15326/36069 1.3125 1.13581 SRX764680 Lymphoblastoid cell line Blood 47179 60/104 15927/36069 1.30653 1.1304
SRX2578898 MDA-MB-231 Breast 25792 45/104 10989/36069 1.42022 1.1304
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX356525 GM12892 Blood 44325 59/104 15675/36069 1.3054 1.12969
SRX627224 Lymphoblastoid cell line Blood 48769 60/104 15980/36069 1.30219 1.12743
SRX4645313 HPAF-II Pancreas 44722 60/104 15999/36069 1.30065 1.12669
SRX2194245 SUM 159PT Breast 35722 60/104 16000/36069 1.30056 1.12669
SRX2778368 Lymphoblastoid cell line Blood 32591 60/104 16052/36069 1.29635 1.12452
SRX2805651 HCCLM3 Liver 47019 61/104 16386/36069 1.29109 1.12452
SRX5549017 Synoviocytes Others 151746 71/104 19945/36069 1.2346 1.12452
SRX356670 GM19239 Blood 48531 61/104 16399/36069 1.29007 1.12452
SRX5343523 LoVo Digestive tract 48488 63/104 17022/36069 1.2836 1.12452
SRX2009541 HCT 116 Digestive tract 33793 62/104 16723/36069 1.28581 1.12452
SRX3931029 MCF-7 Breast 26876 64/104 17320/36069 1.28154 1.12452
SRX1272788 COLO 205 Adipocyte 57088 62/104 16732/36069 1.28512 1.12452
SRX3931086 MCF-7 Breast 25850 63/104 17055/36069 1.28112 1.12452
SRX1538777 HT-29 Digestive tract 45399 62/104 16741/36069 1.28443 1.12452
SRX1592614 NCI-H2087 Lung 52806 62/104 16742/36069 1.28436 1.12452
SRX3160969 Intestinal organoids Digestive tract 52588 67/104 18411/36069 1.26211 1.12452
SRX4210959 OS-RC-2 Kidney 65224 62/104 16753/36069 1.28351 1.12452
SRX1142217 CD8-Positive T-Lymphocytes Blood 4354 25/104 5191/36069 1.67028 1.12452 SRX4288366 Lymphoblastoid cell line Blood 44539 64/104 17405/36069 1.27528 1.12452
SRX3433963 SJNB3 Neural 34520 63/104 17103/36069 1.27752 1.1224
SRX1142194 CD8-Positive T-Lymphocytes Blood 1702 13/104 2017/36069 2.23531 1.11963
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX627243 Lymphoblastoid cell line Blood 41499 57/104 15159/36069 1.30408 1.05214
SRX2749124 1833-BoM Breast 37162 57/104 15160/36069 1.304 1.05214
SRX2733352 SP-49 Blood 29902 57/104 15166/36069 1.30348 1.05184
SRX186655 CD20+ Blood 34223 57/104 15172/36069 1.30297 1.05124
SRX212656 Monocytes-CD14+ Blood 54493 73/104 20767/36069 1.21913 1.05124
SRX764490 Lymphoblastoid cell line Blood 43948 59/104 15744/36069 1.29968 1.04782
SRX356792 MS1 Blood 45589 59/104 15770/36069 1.29754 1.04732
SRX627215 Lymphoblastoid cell line Blood 50102 59/104 15781/36069 1.29664 1.04698
SRX2004223 Monocytes Blood 38304 59/104 15796/36069 1.29541 1.04653
SRX627220 Lymphoblastoid cell line Blood 54308 59/104 15796/36069 1.29541 1.04653 SRX764470 Lymphoblastoid cell line Blood 44943 58/104 15539/36069 1.29451 1.04596
SRX4614416 DLBCL Blood 25517 59/104 15835/36069 1.29221 1.04596
SRX850184 T-47D Breast 31349 59/104 15835/36069 1.29221 1.04596
SRX764627 Lymphoblastoid cell line Blood 50115 59/104 15837/36069 1.29205 1.04596 SRX764589 Lymphoblastoid cell line Blood 50554 59/104 15839/36069 1.29189 1.04596 SRX764533 Lymphoblastoid cell line Blood 47324 59/104 15843/36069 1.29156 1.04596
SRX356669 GM19239 Blood 47540 60/104 16120/36069 1.29088 1.04596
SRX356505 GM12891 Blood 48307 59/104 15851/36069 1.29091 1.04596
SRX764625 Lymphoblastoid cell line Blood 46255 59/104 15863/36069 1.28993 1.04596
SRX2771353 BICR 31 Others 3214 18/104 3357/36069 1.85961 1.04596
SRX152074 HCT 116 Digestive tract 33313 61/104 16451/36069 1.28599 1.04596
SRX153150 HCT 116 Digestive tract 33336 61/104 16451/36069 1.28599 1.04596
SRX1733637 Macrophages Blood 60324 62/104 16793/36069 1.28045 1.04596
SRX627253 Lymphoblastoid cell line Blood 61451 61/104 16540/36069 1.27907 1.04596
SRX3433296 Osteosarcoma Bone 49088 70/104 19734/36069 1.23022 1.04596
SRX1035337 T-47D Breast 32373 62/104 16847/36069 1.27635 1.04596
SRX627249 Lymphoblastoid cell line Blood 55520 60/104 16237/36069 1.28158 1.04596
SRX2194244 SUM 159PT Breast 41729 62/104 16867/36069 1.27484 1.04596
SRX1568612 Colorectal cancer cell lines Digestive tract 79883 68/104 18975/36069 1.24288 1.04596 SRX2268299 Mesenchymal stem cells Others 37835 63/104 17213/36069 1.26936 1.04596
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX4473702 Small cell ovary carcinoma Gonad 27481 65/104 17906/36069 1.25897 1.04596
SRX1094509 HEK293-T-REx Kidney 595 7/104 826/36069 2.93913 1.04596
SRX663242 Keratinocytes Epidermis 66538 63/104 17253/36069 1.26642 1.04596
SRX3102567 SW 480 Digestive tract 55244 66/104 18288/36069 1.25164 1.04596
DRX015358 LC-2/ad Lung 78550 67/104 18677/36069 1.24414 1.04482
SRX2207676 HUVEC Cardiovascular 52636 67/104 18677/36069 1.24414 1.04482
SRX1568605 Colorectal cancer cell lines Digestive tract 427 4/104 291/36069 4.76725 1.04303
SRX1131566 SUM 149PT Breast 72579 67/104 18707/36069 1.24214 1.04234
SRX3596440 NCI-H1299 Lung 26573 64/104 17647/36069 1.25779 1.04234
DRX015241 ABC-1 Lung 52285 63/104 17313/36069 1.26203 1.04234
SRX2481501 Erythroid Precursor Cells Blood 66714 66/104 18372/36069 1.24591 1.04062 SRX3545879 Bone marrow nuclear cells Blood 506 4/104 297/36069 4.67094 1.02014 SRX3898642 Killer Cells, Natural Blood 24560 53/104 13947/36069 1.31794 1.00974
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補⾜表2：H3K27ac修飾エンリッチメント解析結果（enhancer variants）
ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX2733357 SP-49 Blood 31937 81/119 15566/36069 1.57723 6.33078
SRX2733359 SP-49 Blood 29217 75/119 14970/36069 1.51854 4.77208
SRX2438596 CLL Blood 17277 66/119 12862/36069 1.55533 4.26586
SRX2733352 SP-49 Blood 29902 74/119 15175/36069 1.47805 4.20437
SRX2004311 Monocytes Blood 41318 76/119 16517/36069 1.39466 3.46354
SRX370350 Lymphoma, B-Cell Blood 40557 84/119 18975/36069 1.34179 3.45565
SRX356458 GM12878 Blood 47484 74/119 16098/36069 1.39331 3.3136
SRX2778371 Lymphoblastoid cell line Blood 32448 76/119 16844/36069 1.36759 3.14966 SRX4288371 Lymphoblastoid cell line Blood 49206 78/119 17405/36069 1.35834 3.14687 SRX4288374 Lymphoblastoid cell line Blood 48469 78/119 17583/36069 1.34459 2.99811 SRX2026368 Bld@ Adult T-cell leukemia-lymphoma Blood 31916 74/119 16602/36069 1.35101 2.85153
SRX2170312 KOPT-K1 Blood 34339 71/119 15817/36069 1.36057 2.73577
SRX3030203 ME-1 Blood 41716 72/119 16107/36069 1.35489 2.73063
SRX370342 Lymphoma, B-Cell Blood 34367 79/119 18211/36069 1.31486 2.71271
SRX4288375 Lymphoblastoid cell line Blood 49195 76/119 17318/36069 1.33016 2.71211 SRX4288378 Lymphoblastoid cell line Blood 50186 76/119 17387/36069 1.32488 2.69801
SRX3591444 B-CLL cells Blood 16120 68/119 14942/36069 1.37939 2.64975
SRX356671 GM19239 Blood 48891 72/119 16251/36069 1.34289 2.5926
SRX4288370 Lymphoblastoid cell line Blood 52675 80/119 18721/36069 1.29523 2.57643
SRX683856 SU-DHL-6 Blood 31101 70/119 15895/36069 1.33483 2.3438
SRX4047423 MOLM-13 Blood 49537 74/119 17146/36069 1.30815 2.31749
SRX735287 Th1 Cells Blood 71143 79/119 18650/36069 1.28391 2.31749
SRX2004244 Monocytes Blood 45361 72/119 16604/36069 1.31434 2.31542
SRX2004303 Monocytes Blood 36813 68/119 15510/36069 1.32888 2.21916
SRX356670 GM19239 Blood 48531 71/119 16417/36069 1.31085 2.19875
SRX2026380 Bld@ Adult T-cell leukemia-lymphoma Blood 27573 65/119 14740/36069 1.3366 2.12347
SRX5391692 Neutrophils Blood 15746 52/119 11078/36069 1.42275 2.1135
SRX356504 GM12891 Blood 50665 69/119 16011/36069 1.30622 2.07646
SRX2004294 Monocytes Blood 41309 70/119 16289/36069 1.30254 2.07582
SRX2655453 THP-1 Blood 32512 73/119 17143/36069 1.29069 2.07104
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX4288367 Lymphoblastoid cell line Blood 54790 77/119 18409/36069 1.26779 2.06513 SRX4288380 Lymphoblastoid cell line Blood 52465 76/119 18237/36069 1.26313 1.94649
SRX2004266 Monocytes Blood 39546 68/119 15949/36069 1.2923 1.85192
SRX1528530 MOLT-4 Blood 32836 67/119 15695/36069 1.2939 1.85086
SRX2004199 Monocytes Blood 50554 70/119 16541/36069 1.2827 1.84251
SRX4288385 Lymphoblastoid cell line Blood 44490 72/119 17223/36069 1.2671 1.82831
SRX356459 GM12878 Blood 47776 67/119 15736/36069 1.29053 1.74815
SRX2655454 THP-1 Blood 36170 69/119 16337/36069 1.28016 1.73631
SRX4047427 MOLM-13 Blood 47689 71/119 16994/36069 1.26634 1.72709
SRX2438598 CLL Blood 19882 58/119 13201/36069 1.33171 1.72656
SRX370348 Lymphoma, B-Cell Blood 33554 74/119 17889/36069 1.25381 1.72424
SRX3591446 B-CLL cells Blood 22320 65/119 15330/36069 1.28516 1.64408
SRX2004211 Monocytes Blood 43553 69/119 16502/36069 1.26736 1.62304
SRX4288365 Lymphoblastoid cell line Blood 50961 71/119 17175/36069 1.25299 1.6146 SRX4288387 Lymphoblastoid cell line Blood 50019 73/119 17723/36069 1.24845 1.6146
SRX3591447 B-CLL cells Blood 21892 64/119 15165/36069 1.27916 1.54557
SRX764501 Lymphoblastoid cell line Blood 42941 66/119 15753/36069 1.26989 1.53244
SRX1158181 CUTLL1 Blood 38040 66/119 15766/36069 1.26885 1.53174
SRX356669 GM19239 Blood 47540 67/119 16148/36069 1.2576 1.51924
SRX212428 Treg Blood 39283 69/119 16662/36069 1.25519 1.51864
SRX2004285 Monocytes Blood 39214 68/119 16437/36069 1.25393 1.5169
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP)
SRX2004255 Monocytes Blood 53080 68/119 16764/36069 1.22947 1.31173
SRX3459093 THP-1 Blood 46229 70/119 17332/36069 1.22416 1.31173
SRX130606 OCI-LY1 Blood 58209 70/119 17351/36069 1.22281 1.31038
SRX1142209 CD8-Positive T-Lymphocytes Blood 211 3/119 176/36069 5.16649 1.31014 SRX4288388 Lymphoblastoid cell line Blood 46304 70/119 17374/36069 1.2212 1.30878 SRX4288366 Lymphoblastoid cell line Blood 44539 70/119 17401/36069 1.2193 1.30566
SRX735288 Th2 Cells Blood 75699 72/119 18013/36069 1.21153 1.30423
SRX3591451 B-CLL cells Blood 23584 63/119 15419/36069 1.23843 1.23391
SRX3459092 THP-1 Blood 36660 67/119 16534/36069 1.22824 1.22555
SRX609005 CD4-Positive T-Lymphocytes Blood 23882 68/119 16864/36069 1.22218 1.22147
SRX3591829 MOLM-13 Blood 37450 67/119 16603/36069 1.22314 1.22105
SRX2158966 Endometriosis Uterus 43810 64/119 15815/36069 1.22659 1.13692
SRX369135 CUTLL1 Blood 45553 65/119 16122/36069 1.22203 1.13273
SRX2004257 Monocytes Blood 38111 65/119 16128/36069 1.22157 1.13233
SRX356505 GM12891 Blood 48307 64/119 15867/36069 1.22257 1.13233
SRX2004205 Monocytes Blood 41491 66/119 16377/36069 1.22151 1.13194
SRX3459090 THP-1 Blood 32663 64/119 15883/36069 1.22133 1.1305
SRX5310586 Mast Cells Blood 41974 75/119 19178/36069 1.18535 1.12513
SRX1041803 Jurkat Blood 47602 70/119 17625/36069 1.2038 1.12407
SRX130607 OCI-LY1 Blood 60523 69/119 17361/36069 1.20465 1.12272
SRX370346 Lymphoma, B-Cell Blood 30527 71/119 17986/36069 1.1965 1.12005
SRX2339190 B-Lymphocytes Blood 28547 48/119 11284/36069 1.28933 1.09132
SRX2548291 KK1 Blood 29041 60/119 14806/36069 1.22829 1.06209
SRX764684 Lymphoblastoid cell line Blood 42252 63/119 15629/36069 1.22179 1.05307
SRX356525 GM12892 Blood 44325 63/119 15705/36069 1.21588 1.04788
SRX2004204 Monocytes Blood 45666 65/119 16256/36069 1.21196 1.04467
SRX2004233 Monocytes Blood 36477 64/119 16028/36069 1.21029 1.04209
SRX370344 Lymphoma, B-Cell Blood 48474 75/119 19281/36069 1.17901 1.04092
SRX849390 MOLM-14 Blood 35803 65/119 16317/36069 1.20743 1.04072
SRX5310591 Mast Cells Blood 39672 75/119 19312/36069 1.17712 1.04004
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ID Cell Cell class # of peaks Overlaps / Target Overlaps / Control Fold enrichment -log10(adjP) SRX4288384 Lymphoblastoid cell line Blood 50177 69/119 17464/36069 1.19755 1.0377 SRX5765525 CD34 Hematopoietic stem cells Blood 29528 74/119 19037/36069 1.1782 1.03738
SRX2004202 Monocytes Blood 42995 66/119 16646/36069 1.20177 1.03681
SRX5310589 Mast Cells Blood 47278 73/119 18745/36069 1.18039 1.03553
SRX627265 Lymphoblastoid cell line Blood 70084 68/119 17241/36069 1.19546 1.0346