chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 36,938,356 | C | G | false | missense_variant | 814 | rs34167802 | 0.001545 | 0.002226 | 6.6169 | missense_variant | missense_variant | ENSG00000273706 | 0 | ENSG00000273706 | 0 | 0 | ENSG00000273706 | missense_variant | ENSG00000273706 | 880 | ENSG00000273706 | 103 | 103 | ENSG00000273706 | missense_variant | NA | NA | |
17 | 37,345,342 | G | A | false | 5_prime_UTR_variant | 891 | rs77402427 | 0.000041 | 0.11129 | 96.551 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000278540 | 0 | ENSG00000278540 | 5,491 | 0 | ENSG00000278540 | 5_prime_UTR_variant | ENSG00000278540 | 13,753 | ENSG00000278540 | 13,778 | 13,753 | ENSG00000278540 | 5_prime_UTR_variant | NA | NA | |
17 | 37,351,277 | T | C | false | distal | 859 | rs11869216 | 0.000513 | 0.20806 | 215.79 | intron_variant | dELS_flank | ENSG00000278540 | 5,894 | ENSG00000278540 | 7,721 | 5,894 | ENSG00000278540 | dELS_flank | ENSG00000278540 | 7,818 | ENSG00000278540 | 7,843 | 7,818 | ENSG00000278540 | distal | NA | NA | |
17 | 37,470,450 | A | C | false | missense_variant | 820 | rs142392695 | 0.000061 | 0.000021 | 8.2316 | missense_variant | missense_variant | ENSG00000276234 | 0 | ENSG00000276234 | 0 | 0 | ENSG00000276234 | missense_variant | ENSG00000276023 | 19,440 | ENSG00000276234 | 6,968 | 6,968 | ENSG00000276234 | missense_variant | NA | NA | |
17 | 37,506,157 | C | T | false | distal | 846 | rs150699618 | 0.000629 | 0.11978 | 94.136 | intron_variant | dELS_flank | ENSG00000276023 | 3,721 | ENSG00000275066 | 9,287 | 3,721 | ENSG00000276023 | dELS_flank | ENSG00000276023 | 3,721 | ENSG00000275066 | 11,184 | 3,721 | ENSG00000276023 | distal | NA | NA | |
17 | 37,510,532 | C | T | false | 5_prime_UTR_variant | 885 | rs536001314 | 0.00013 | 0.001918 | 13.987 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000276023 | 0 | ENSG00000275066 | 4,912 | 0 | ENSG00000276023 | 5_prime_UTR_variant | ENSG00000276023 | 652 | ENSG00000275066 | 6,809 | 652 | ENSG00000276023 | 5_prime_UTR_variant | NA | NA | |
17 | 37,510,546 | C | T | false | 5_prime_UTR_variant | 885 | rs556724389 | 0.002623 | 0.001538 | 2.9267 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000276023 | 0 | ENSG00000275066 | 4,898 | 0 | ENSG00000276023 | 5_prime_UTR_variant | ENSG00000276023 | 666 | ENSG00000275066 | 6,795 | 666 | ENSG00000276023 | 5_prime_UTR_variant | NA | NA | |
17 | 37,510,570 | G | A | false | 5_prime_UTR_variant | 885 | rs191798576 | 0.000197 | 0.002449 | 12.552 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000276023 | 0 | ENSG00000275066 | 4,874 | 0 | ENSG00000276023 | 5_prime_UTR_variant | ENSG00000276023 | 690 | ENSG00000275066 | 6,771 | 690 | ENSG00000276023 | 5_prime_UTR_variant | NA | NA | |
17 | 37,577,539 | T | C | false | missense_variant | 837 | rs12602536 | 0.000078 | 0.17944 | 82.76 | missense_variant | missense_variant | ENSG00000275066 | 0 | ENSG00000275066 | 0 | 0 | ENSG00000275066 | missense_variant | ENSG00000275066 | 7,873 | ENSG00000275066 | 1,058 | 1,058 | ENSG00000275066 | missense_variant | NA | NA | |
17 | 37,611,979 | C | A | false | 3_prime_UTR_variant | 918 | rs12946700 | 0.002597 | 0.1626 | 90.503 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000278053 | 0 | ENSG00000278053 | 130 | 0 | ENSG00000278053 | 3_prime_UTR_variant | ENSG00000275066 | 2,506 | ENSG00000277688 | 2,239 | 2,239 | ENSG00000277688 | 3_prime_UTR_variant | NA | NA | |
17 | 37,687,414 | G | A | true | splicing | 923 | rs3110641 | 0.994365 | Urea | 0.21634 | 17.347 | intron_variant | dELS | ENSG00000275410 | 21 | ENSG00000277501 | 3,161 | 21 | ENSG00000275410 | exon_proximal | ENSG00000278053 | 43,967 | ENSG00000274244 | 38,280 | 38,280 | ENSG00000274244 | splicing | NA | splicing:b1 |
17 | 37,713,312 | C | A | true | distal | 874 | rs17138478 | 1 | ALT,AST,Alb,CRP,Cholelithiasis | 0.12895 | 15.28 | intron_variant | dELS | ENSG00000275410 | 2,648 | ENSG00000275410 | 15,298 | 2,648 | ENSG00000275410 | dELS | ENSG00000275410 | 31,705 | ENSG00000275410 | 20,504 | 20,504 | ENSG00000275410 | distal | NA | NA |
17 | 37,869,513 | A | C | true | distal | 924 | rs8081051 | 0.95772 | GGT | 0.40541 | 57.942 | intron_variant | intron_variant | ENSG00000273513 | 54,901 | ENSG00000276715 | 4,690 | 4,690 | ENSG00000276715 | intron_variant | ENSG00000273513 | 54,901 | ENSG00000276715 | 14,284 | 14,284 | ENSG00000276715 | distal | NA | NA |
17 | 38,296,352 | C | G | false | tss_proximal | 901 | rs111576083 | 0.000472 | 0.074977 | 78.238 | upstream_gene_variant | pELS | ENSG00000278845 | 670 | ENSG00000277399 | 29,177 | 670 | ENSG00000278845 | tss_proximal | ENSG00000278845 | 670 | ENSG00000277399 | 32,150 | 670 | ENSG00000278845 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,327,639 | G | T | false | missense_variant | 833 | rs62073368 | 0.000381 | 0.023683 | 25.871 | missense_variant | missense_variant | ENSG00000277399 | 0 | ENSG00000277399 | 730 | 0 | ENSG00000277399 | missense_variant | ENSG00000277399 | 16,316 | ENSG00000277399 | 863 | 863 | ENSG00000277399 | missense_variant | NA | NA | |
17 | 38,328,681 | C | G | false | missense_variant | 810 | rs149998444 | 0.000308 | 0.00798 | 11.369 | missense_variant | missense_variant | ENSG00000277399 | 0 | ENSG00000277399 | 177 | 0 | ENSG00000277399 | missense_variant | ENSG00000277399 | 15,274 | ENSG00000277399 | 177 | 177 | ENSG00000277399 | missense_variant | NA | NA | |
17 | 38,345,940 | T | C | false | distal | 905 | rs192121086 | 0.000056 | 0.005191 | 10.864 | intergenic_variant | intergenic_variant | ENSG00000277399 | 1,983 | ENSG00000277399 | 2,092 | 1,983 | ENSG00000277399 | intergenic_variant | ENSG00000277399 | 1,983 | ENSG00000277399 | 2,092 | 1,983 | ENSG00000277399 | distal | NA | NA | |
17 | 38,420,786 | G | C | false | distal | 884 | rs35656980 | 0.000105 | 0.37254 | 50.893 | intron_variant | dELS | ENSG00000275832 | 7,677 | ENSG00000275832 | 1,386 | 1,386 | ENSG00000275832 | dELS | ENSG00000275832 | 7,677 | ENSG00000275832 | 1,505 | 1,505 | ENSG00000275832 | distal | NA | NA | |
17 | 38,427,913 | T | C | false | tss_proximal | 897 | rs113767048 | 0.007017 | 0.032753 | 43.436 | intron_variant | pELS | ENSG00000275832 | 550 | ENSG00000275832 | 8,513 | 550 | ENSG00000275832 | tss_proximal | ENSG00000275832 | 550 | ENSG00000275832 | 8,632 | 550 | ENSG00000275832 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,428,092 | C | A | false | tss_proximal | 897 | rs78325721 | 0.006295 | 0.028832 | 45.976 | intron_variant | PLS_flank | ENSG00000275832 | 371 | ENSG00000275832 | 8,692 | 371 | ENSG00000275832 | tss_proximal | ENSG00000275832 | 371 | ENSG00000275832 | 8,811 | 371 | ENSG00000275832 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,452,555 | A | G | false | tss_proximal | 929 | rs34624250 | 0.002759 | 0.10423 | 78.271 | intron_variant | PLS_flank | ENSG00000275832 | 4,844 | ENSG00000276170 | 110 | 110 | ENSG00000276170 | tss_proximal | ENSG00000275832 | 4,844 | ENSG00000276170 | 110 | 110 | ENSG00000276170 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 38,458,241 | C | T | false | missense_variant | 823 | rs151011696 | 0.000889 | 0.01062 | 34.606 | missense_variant | missense_variant | ENSG00000275832 | 0 | ENSG00000275832 | 0 | 0 | ENSG00000275832 | missense_variant | ENSG00000275832 | 840 | ENSG00000275832 | 4,550 | 840 | ENSG00000275832 | missense_variant | NA | NA | |
17 | 38,481,747 | T | C | false | tss_proximal | 926 | rs11079010 | 0.002122 | 0.12368 | 32.482 | intron_variant | dELS | ENSG00000275832 | 274 | ENSG00000275832 | 274 | 274 | ENSG00000275832 | tss_proximal | ENSG00000275832 | 8,714 | ENSG00000275832 | 775 | 775 | ENSG00000275832 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
17 | 38,513,651 | T | A | false | distal | 919 | rs7405566 | 0.000132 | 0.17844 | 42.787 | intergenic_variant | CA_flank | ENSG00000275832 | 1,265 | ENSG00000275832 | 3,532 | 1,265 | ENSG00000275832 | CA_flank | ENSG00000275832 | 15,857 | ENSG00000275832 | 13,317 | 13,317 | ENSG00000275832 | distal | NA | NA | |
17 | 38,513,693 | A | G | false | distal | 919 | rs7406725 | 0.000146 | 0.17775 | 42.616 | intergenic_variant | CA_flank | ENSG00000275832 | 1,307 | ENSG00000275832 | 3,574 | 1,307 | ENSG00000275832 | CA_flank | ENSG00000275832 | 15,899 | ENSG00000275832 | 13,359 | 13,359 | ENSG00000275832 | distal | NA | NA | |
17 | 38,609,605 | G | C | false | distal | 875 | rs7214959 | 0.000119 | 0.42036 | 60.333 | intergenic_variant | dELS | ENSG00000277363 | 3,652 | ENSG00000274996 | 6,903 | 3,652 | ENSG00000277363 | dELS | ENSG00000277363 | 3,652 | ENSG00000274996 | 8,555 | 3,652 | ENSG00000277363 | distal | NA | NA | |
17 | 38,716,669 | G | T | false | missense_variant | 832 | rs145966494 | 0.008644 | 0.008672 | 23.952 | missense_variant | missense_variant | ENSG00000275023 | 0 | ENSG00000275665 | 0 | 0 | ENSG00000275023 | missense_variant | ENSG00000275023 | 754 | ENSG00000275023 | 840 | 754 | ENSG00000275023 | missense_variant | NA | NA | |
17 | 38,717,167 | G | A | false | tss_proximal | 899 | rs138785746 | 0.000877 | 0.008011 | 16.84 | intron_variant | dELS_flank | ENSG00000275023 | 185 | ENSG00000275023 | 342 | 185 | ENSG00000275023 | tss_proximal | ENSG00000275023 | 256 | ENSG00000275023 | 342 | 256 | ENSG00000275023 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,719,574 | T | C | false | missense_variant | 831 | rs62620198 | 0.000077 | 0.011578 | 19.849 | missense_variant | missense_variant | ENSG00000275023 | 0 | ENSG00000275023 | 0 | 0 | ENSG00000275023 | missense_variant | ENSG00000275023 | 2,149 | ENSG00000273627 | 116 | 116 | ENSG00000273627 | missense_variant | NA | NA | |
17 | 38,731,353 | G | A | false | missense_variant | 814 | rs563305407 | 0.000094 | 0.002662 | 17.068 | missense_variant | missense_variant | ENSG00000277972 | 0 | ENSG00000277972 | 0 | 0 | ENSG00000277972 | missense_variant | ENSG00000277972 | 1,011 | ENSG00000277972 | 245 | 245 | ENSG00000277972 | missense_variant | NA | NA | |
17 | 38,751,870 | C | T | false | tss_proximal | 903 | rs228273 | 0.00252 | 0.35953 | 52.934 | upstream_gene_variant | pELS | ENSG00000277791 | 870 | ENSG00000277182 | 96 | 96 | ENSG00000277182 | tss_proximal | ENSG00000277791 | 870 | ENSG00000277791 | 893 | 870 | ENSG00000277791 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,802,749 | G | A | false | missense_variant | 838 | rs139189793 | 0.000438 | 0.012012 | 23.451 | missense_variant | missense_variant | ENSG00000273559 | 0 | ENSG00000273559 | 0 | 0 | ENSG00000273559 | missense_variant | ENSG00000276293 | 2,622 | ENSG00000276293 | 3,226 | 2,622 | ENSG00000276293 | missense_variant | NA | NA | |
17 | 38,868,066 | T | C | false | distal | 839 | rs979607 | 0.000913 | 0.21739 | 71.678 | intergenic_variant | pELS | ENSG00000002834 | 1,792 | ENSG00000002834 | 1,964 | 1,792 | ENSG00000002834 | pELS | ENSG00000002834 | 1,792 | ENSG00000002834 | 1,964 | 1,792 | ENSG00000002834 | distal | NA | NA | |
17 | 38,870,542 | G | C | false | tss_proximal | 903 | rs12939116 | 0.001365 | 0.35722 | 62.83 | intron_variant | pELS | ENSG00000002834 | 283 | ENSG00000002834 | 283 | 283 | ENSG00000002834 | tss_proximal | ENSG00000002834 | 398 | ENSG00000002834 | 480 | 398 | ENSG00000002834 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 38,890,949 | C | T | false | tss_proximal | 925 | rs567689078 | 0.000557 | 0.001367 | 8.9361 | intron_variant | dELS_flank | ENSG00000002834 | 444 | ENSG00000002834 | 444 | 444 | ENSG00000002834 | tss_proximal | ENSG00000002834 | 17,058 | ENSG00000002834 | 714 | 714 | ENSG00000002834 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
17 | 38,994,738 | C | T | false | distal | 862 | rs12939446 | 0.001356 | 0.47481 | 139.71 | intergenic_variant | dELS_flank | ENSG00000204952 | 27,334 | ENSG00000265428 | 1,584 | 1,584 | ENSG00000265428 | dELS_flank | ENSG00000204952 | 27,334 | ENSG00000265428 | 1,885 | 1,885 | ENSG00000265428 | distal | NA | NA | |
17 | 38,994,835 | G | A | false | distal | 862 | rs12947087 | 0.001355 | 0.47482 | 139.72 | intergenic_variant | dELS_flank | ENSG00000204952 | 27,431 | ENSG00000265428 | 1,487 | 1,487 | ENSG00000265428 | dELS_flank | ENSG00000204952 | 27,431 | ENSG00000265428 | 1,788 | 1,788 | ENSG00000265428 | distal | NA | NA | |
17 | 38,998,764 | T | C | false | distal | 862 | rs12949369 | 0.000871 | 0.4767 | 139.7 | intergenic_variant | dELS_flank | ENSG00000204952 | 31,360 | ENSG00000265428 | 2,139 | 2,139 | ENSG00000265428 | dELS_flank | ENSG00000204952 | 31,360 | ENSG00000265428 | 2,139 | 2,139 | ENSG00000265428 | distal | NA | NA | |
17 | 39,052,647 | C | T | false | distal | 933 | rs574053926 | 0.000072 | 0.001281 | 12.518 | intron_variant | TF_flank | ENSG00000161381 | 10,665 | ENSG00000214553 | 217 | 217 | ENSG00000214553 | TF_flank | ENSG00000161381 | 54,839 | ENSG00000263818 | 4,371 | 4,371 | ENSG00000263818 | distal | NA | NA | |
17 | 39,053,275 | A | G | false | distal | 933 | rs539145580 | 0.000468 | 0.001255 | 4.216 | downstream_gene_variant | TF_flank | ENSG00000161381 | 10,037 | ENSG00000214553 | 59 | 59 | ENSG00000214553 | TF_flank | ENSG00000161381 | 54,211 | ENSG00000263818 | 3,743 | 3,743 | ENSG00000263818 | distal | NA | NA | |
17 | 39,092,543 | T | C | false | distal | 884 | rs4328474 | 0.000337 | 0.38285 | 82.878 | intron_variant | dELS | ENSG00000161381 | 4,840 | ENSG00000286443 | 600 | 600 | ENSG00000286443 | dELS | ENSG00000161381 | 14,943 | ENSG00000286443 | 5,566 | 5,566 | ENSG00000286443 | distal | NA | NA | |
17 | 39,144,124 | C | A | false | distal | 861 | rs16505 | 0.0004 | 0.13594 | 79.163 | intron_variant | dELS_flank | ENSG00000161381 | 4,291 | ENSG00000161381 | 572 | 572 | ENSG00000161381 | dELS_flank | ENSG00000161381 | 7,512 | ENSG00000161381 | 7,394 | 7,394 | ENSG00000161381 | distal | NA | NA | |
17 | 39,144,188 | C | G | false | distal | 861 | rs645167 | 0.00019 | 0.14688 | 78.549 | intron_variant | dELS_flank | ENSG00000161381 | 4,355 | ENSG00000161381 | 508 | 508 | ENSG00000161381 | dELS_flank | ENSG00000161381 | 7,448 | ENSG00000161381 | 7,330 | 7,330 | ENSG00000161381 | distal | NA | NA | |
17 | 39,154,219 | G | C | false | tss_proximal | 868 | rs76638029 | 0.000263 | 0.025772 | 22.261 | intron_variant | pELS_flank | ENSG00000161381 | 47 | ENSG00000161381 | 986 | 47 | ENSG00000161381 | tss_proximal | ENSG00000161381 | 174 | ENSG00000161381 | 986 | 174 | ENSG00000161381 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 39,203,699 | T | C | false | distal | 877 | rs76704154 | 0.000574 | 0.33694 | 45.439 | intron_variant | dELS | ENSG00000108298 | 377 | ENSG00000108298 | 377 | 377 | ENSG00000108298 | dELS | ENSG00000108298 | 3,191 | ENSG00000108298 | 2,683 | 2,683 | ENSG00000108298 | distal | NA | NA | |
17 | 39,636,360 | G | A | false | 3_prime_UTR_variant | 913 | rs9532 | 0.000543 | 0.013077 | 133.51 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000131771 | 0 | ENSG00000131771 | 0 | 0 | ENSG00000131771 | 3_prime_UTR_variant | ENSG00000131748 | 780 | ENSG00000131748 | 729 | 729 | ENSG00000131748 | 3_prime_UTR_variant | NA | NA | |
17 | 39,658,771 | C | T | false | missense_variant | 836 | rs142935105 | 0.000589 | 0.003402 | 15.038 | missense_variant | missense_variant | ENSG00000131748 | 0 | ENSG00000131748 | 0 | 0 | ENSG00000131748 | missense_variant | ENSG00000131748 | 5,645 | ENSG00000131748 | 217 | 217 | ENSG00000131748 | missense_variant | NA | NA | |
17 | 39,659,051 | G | C | true | missense_variant | 827 | rs11556624 | 1 | ApoA,HDLC | 0.024679 | 54.487 | missense_variant | missense_variant | ENSG00000131748 | 0 | ENSG00000131748 | 0 | 0 | ENSG00000131748 | missense_variant | ENSG00000131748 | 5,925 | ENSG00000131748 | 12 | 12 | ENSG00000131748 | missense_variant | NA | NA |
17 | 39,723,335 | A | G | true | missense_variant | 828 | rs1136201 | 0.99996 | Hb,sCr | 0.2479 | 90.83 | missense_variant | missense_variant | ENSG00000141736 | 0 | ENSG00000141736 | 0 | 0 | ENSG00000141736 | missense_variant | ENSG00000141736 | 5,905 | ENSG00000265178 | 3,159 | 3,159 | ENSG00000265178 | missense_variant | NA | NA |
17 | 39,740,603 | C | T | false | tss_proximal | 902 | rs72832924 | 0.001564 | 0.18679 | 97.343 | intron_variant | pELS | ENSG00000141738 | 421 | ENSG00000141738 | 421 | 421 | ENSG00000141738 | tss_proximal | ENSG00000141738 | 635 | ENSG00000141738 | 470 | 470 | ENSG00000141738 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 39,870,332 | C | T | false | distal | 844 | rs117064469 | 0.000169 | 0.007767 | 82.287 | intron_variant | pELS_flank | ENSG00000186075 | 361 | ENSG00000161405 | 6,143 | 361 | ENSG00000186075 | pELS_flank | ENSG00000186075 | 2,115 | ENSG00000161405 | 6,143 | 2,115 | ENSG00000186075 | distal | NA | NA | |
17 | 39,906,137 | C | T | false | missense_variant | 810 | rs35266519 | 0.000539 | 0.008075 | 20.728 | missense_variant | missense_variant | ENSG00000073605 | 0 | ENSG00000073605 | 0 | 0 | ENSG00000073605 | missense_variant | ENSG00000073605 | 11,178 | ENSG00000073605 | 198 | 198 | ENSG00000073605 | missense_variant | NA | NA | |
17 | 39,980,523 | C | G | false | tss_proximal | 899 | rs141644442 | 0.000115 | 0.007883 | 8.9507 | upstream_gene_variant | PLS | ENSG00000108344 | 283 | ENSG00000108344 | 312 | 283 | ENSG00000108344 | tss_proximal | ENSG00000108344 | 283 | ENSG00000108344 | 312 | 283 | ENSG00000108344 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 40,016,567 | T | C | true | missense_variant | 829 | rs142286142 | 0.99992 | Neutro,WBC | 0.001704 | 14.263 | missense_variant | missense_variant | ENSG00000108342 | 0 | ENSG00000108342 | 0 | 0 | ENSG00000108342 | missense_variant | ENSG00000108342 | 1,079 | ENSG00000108342 | 1,119 | 1,079 | ENSG00000108342 | missense_variant | NA | NA |
17 | 40,022,073 | A | T | false | tss_proximal | 932 | rs193125906 | 0.000071 | 0.002144 | 15.191 | intron_variant | dELS_flank | ENSG00000008838 | 18 | ENSG00000008838 | 18 | 18 | ENSG00000008838 | tss_proximal | ENSG00000008838 | 1,086 | ENSG00000008838 | 368 | 368 | ENSG00000008838 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 40,022,426 | G | A | false | missense_variant | 814 | rs149459087 | 0.000157 | 0.00344 | 12.546 | missense_variant | missense_variant | ENSG00000008838 | 0 | ENSG00000008838 | 0 | 0 | ENSG00000008838 | missense_variant | ENSG00000008838 | 733 | ENSG00000008838 | 15 | 15 | ENSG00000008838 | missense_variant | NA | NA | |
17 | 40,161,140 | C | T | false | tss_proximal | 925 | rs190828283 | 0.000413 | 0.001543 | 4.8295 | intron_variant | pELS_flank | ENSG00000108349 | 612 | ENSG00000108349 | 612 | 612 | ENSG00000108349 | tss_proximal | ENSG00000108352 | 15,869 | ENSG00000108349 | 656 | 656 | ENSG00000108349 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
17 | 40,219,394 | G | T | false | 5_prime_UTR_variant | 890 | rs535395784 | 0.002807 | 0.020158 | 18.556 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000171475 | 0 | ENSG00000171475 | 0 | 0 | ENSG00000171475 | 5_prime_UTR_variant | ENSG00000171475 | 36 | ENSG00000171475 | 67 | 36 | ENSG00000171475 | 5_prime_UTR_variant | NA | NA | |
17 | 40,264,592 | A | G | false | missense_variant | 820 | rs573490967 | 0.000118 | 0.006261 | 12.302 | missense_variant | missense_variant | ENSG00000171475 | 0 | ENSG00000171475 | 0 | 0 | ENSG00000171475 | missense_variant | ENSG00000094804 | 23,286 | ENSG00000171475 | 8,203 | 8,203 | ENSG00000171475 | missense_variant | NA | NA | |
17 | 40,390,249 | T | C | false | tss_proximal | 867 | rs139056940 | 0.004806 | 0.025701 | 314.43 | intron_variant | pELS | ENSG00000131747 | 84 | ENSG00000131747 | 84 | 84 | ENSG00000131747 | tss_proximal | ENSG00000131747 | 646 | ENSG00000222881 | 1,088 | 646 | ENSG00000131747 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 40,391,616 | C | T | false | missense_variant | 827 | rs34300454 | 0.003352 | 0.026012 | 309.59 | missense_variant | missense_variant | ENSG00000131747 | 0 | ENSG00000131747 | 0 | 0 | ENSG00000131747 | missense_variant | ENSG00000131747 | 2,013 | ENSG00000222881 | 277 | 277 | ENSG00000222881 | missense_variant | NA | NA | |
17 | 40,447,297 | A | G | true | distal | 875 | rs4890114 | 0.98834 | IGF1 | 0.42806 | 66.435 | intron_variant | dELS | ENSG00000141753 | 3,212 | ENSG00000240125 | 7,379 | 3,212 | ENSG00000141753 | dELS | ENSG00000141753 | 3,846 | ENSG00000240125 | 7,379 | 3,846 | ENSG00000141753 | distal | NA | NA |
17 | 40,479,624 | C | T | false | tss_proximal | 869 | rs72819648 | 0.000687 | 0.074572 | 105.13 | intron_variant | dELS | ENSG00000131746 | 49 | ENSG00000131746 | 49 | 49 | ENSG00000131746 | tss_proximal | ENSG00000131746 | 975 | ENSG00000131746 | 387 | 387 | ENSG00000131746 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 40,560,108 | G | A | true | tss_proximal | 901 | rs2290065 | 0.95855 | Lym | 0.064853 | 22.019 | intron_variant | pELS | ENSG00000126353 | 570 | ENSG00000266088 | 33,105 | 570 | ENSG00000126353 | tss_proximal | ENSG00000126353 | 904 | ENSG00000266088 | 34,546 | 904 | ENSG00000126353 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 40,564,574 | C | T | false | tss_proximal | 901 | rs74811341 | 0.000448 | 0.047954 | 21.229 | intron_variant | pELS_flank | ENSG00000126353 | 825 | ENSG00000279775 | 32,538 | 825 | ENSG00000126353 | tss_proximal | ENSG00000126353 | 884 | ENSG00000279775 | 34,010 | 884 | ENSG00000126353 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 40,564,720 | G | A | false | tss_proximal | 901 | rs78279284 | 0.000111 | 0.02862 | 19.133 | intron_variant | pELS_flank | ENSG00000126353 | 679 | ENSG00000279775 | 32,392 | 679 | ENSG00000126353 | tss_proximal | ENSG00000126353 | 738 | ENSG00000279775 | 33,864 | 738 | ENSG00000126353 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 40,606,732 | T | C | false | distal | 876 | rs148335357 | 0.000194 | 0.02322 | 52.995 | intergenic_variant | dELS | ENSG00000073584 | 18,229 | ENSG00000279775 | 8,146 | 8,146 | ENSG00000279775 | dELS | ENSG00000073584 | 39,103 | ENSG00000279775 | 8,146 | 8,146 | ENSG00000279775 | distal | NA | NA | |
17 | 40,608,272 | T | A | true | distal | 876 | rs112401631 | 1 | DVT,Eosino,Lym | 0.022898 | 23.412 | intergenic_variant | dELS | ENSG00000073584 | 16,689 | ENSG00000279775 | 9,686 | 9,686 | ENSG00000279775 | dELS | ENSG00000073584 | 37,563 | ENSG00000279775 | 9,686 | 9,686 | ENSG00000279775 | distal | NA | NA |
17 | 40,608,304 | G | C | false | distal | 876 | rs79183289 | 0.000065 | 0.01103 | 129.7 | intergenic_variant | dELS | ENSG00000073584 | 16,657 | ENSG00000279775 | 9,718 | 9,718 | ENSG00000279775 | dELS | ENSG00000073584 | 37,531 | ENSG00000279775 | 9,718 | 9,718 | ENSG00000279775 | distal | NA | NA | |
17 | 40,665,627 | G | A | false | tss_proximal | 899 | rs187167368 | 0.001113 | 0.00818 | 26.831 | upstream_gene_variant | TF | ENSG00000213424 | 449 | ENSG00000213424 | 445 | 445 | ENSG00000213424 | tss_proximal | ENSG00000213424 | 449 | ENSG00000213424 | 445 | 445 | ENSG00000213424 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 40,677,563 | G | A | false | distal | 928 | rs72821867 | 0.004132 | 0.13344 | 33.122 | intergenic_variant | CA-CTCF_flank | ENSG00000213424 | 12,385 | ENSG00000224244 | 9,474 | 9,474 | ENSG00000224244 | CA-CTCF_flank | ENSG00000213424 | 12,385 | ENSG00000224244 | 11,796 | 11,796 | ENSG00000224244 | distal | NA | NA | |
17 | 40,706,267 | T | G | false | distal | 846 | rs71371444 | 0.000204 | 0.11695 | 88.154 | intergenic_variant | dELS_flank | ENSG00000167916 | 2,514 | ENSG00000229028 | 10,966 | 2,514 | ENSG00000167916 | dELS_flank | ENSG00000167916 | 2,514 | ENSG00000229028 | 12,872 | 2,514 | ENSG00000167916 | distal | NA | NA | |
17 | 40,706,350 | A | G | false | distal | 846 | rs35456013 | 0.000177 | 0.11738 | 88.34 | intergenic_variant | dELS_flank | ENSG00000167916 | 2,597 | ENSG00000229028 | 10,883 | 2,597 | ENSG00000167916 | dELS_flank | ENSG00000167916 | 2,597 | ENSG00000229028 | 12,789 | 2,597 | ENSG00000167916 | distal | NA | NA | |
17 | 40,731,275 | G | T | false | distal | 876 | rs62065866 | 0.000136 | 0.021458 | 26.262 | intergenic_variant | dELS | ENSG00000204897 | 16,745 | ENSG00000229028 | 9,342 | 9,342 | ENSG00000229028 | dELS | ENSG00000204897 | 24,055 | ENSG00000229028 | 9,342 | 9,342 | ENSG00000229028 | distal | NA | NA | |
17 | 40,772,128 | C | T | false | 5_prime_UTR_variant | 885 | rs201482924 | 0.000021 | 0.000539 | 5.2052 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000186393 | 0 | ENSG00000171446 | 4,679 | 0 | ENSG00000186393 | 5_prime_UTR_variant | ENSG00000186393 | 72 | ENSG00000171446 | 5,891 | 72 | ENSG00000186393 | 5_prime_UTR_variant | NA | NA | |
17 | 40,772,178 | A | C | false | 5_prime_UTR_variant | 885 | rs189976028 | 0.000081 | 0.00317 | 32.216 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000186393 | 0 | ENSG00000171446 | 4,629 | 0 | ENSG00000186393 | 5_prime_UTR_variant | ENSG00000186393 | 22 | ENSG00000171446 | 5,841 | 22 | ENSG00000186393 | 5_prime_UTR_variant | NA | NA | |
17 | 40,779,624 | C | T | false | missense_variant | 837 | rs17558532 | 0.000102 | 0.17957 | 69.246 | missense_variant | missense_variant | ENSG00000171446 | 0 | ENSG00000171446 | 1,603 | 0 | ENSG00000171446 | missense_variant | ENSG00000171446 | 2,925 | ENSG00000171446 | 1,603 | 1,603 | ENSG00000171446 | missense_variant | NA | NA | |
17 | 40,782,339 | C | G | false | missense_variant | 826 | rs2469826 | 0.000669 | 0.26392 | 81.558 | missense_variant | missense_variant | ENSG00000171446 | 0 | ENSG00000171446 | 4,318 | 0 | ENSG00000171446 | missense_variant | ENSG00000171446 | 210 | ENSG00000171446 | 4,318 | 210 | ENSG00000171446 | missense_variant | NA | NA | |
17 | 40,849,702 | C | T | false | distal | 841 | rs2469816 | 0.000309 | 0.39133 | 176.87 | intergenic_variant | pELS | ENSG00000187242 | 11,600 | ENSG00000265359 | 1,097 | 1,097 | ENSG00000265359 | pELS | ENSG00000187242 | 17,497 | ENSG00000265359 | 1,097 | 1,097 | ENSG00000265359 | distal | NA | NA | |
17 | 40,867,144 | G | A | false | missense_variant | 825 | rs11650915 | 0.000258 | 0.33833 | 147.08 | missense_variant | missense_variant | ENSG00000187242 | 0 | ENSG00000187242 | 619 | 0 | ENSG00000187242 | missense_variant | ENSG00000187242 | 55 | ENSG00000187242 | 619 | 55 | ENSG00000187242 | missense_variant | NA | NA | |
17 | 40,899,174 | A | G | false | distal | 907 | rs62065931 | 0.000136 | 0.006678 | 20.145 | intergenic_variant | intergenic_variant | ENSG00000171431 | 13,931 | ENSG00000171431 | 14,263 | 13,931 | ENSG00000171431 | intergenic_variant | ENSG00000171431 | 13,931 | ENSG00000171431 | 14,263 | 13,931 | ENSG00000171431 | distal | NA | NA | |
17 | 40,935,828 | C | T | false | tss_proximal | 903 | rs2872964 | 0.000183 | 0.35893 | 144.52 | intron_variant | pELS | ENSG00000108244 | 379 | ENSG00000108244 | 379 | 379 | ENSG00000108244 | tss_proximal | ENSG00000108244 | 561 | ENSG00000108244 | 1,006 | 561 | ENSG00000108244 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 40,936,616 | G | A | false | 5_prime_UTR_variant | 892 | rs2269858 | 0.000078 | 0.2405 | 122.62 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000108244 | 0 | ENSG00000108244 | 0 | 0 | ENSG00000108244 | 5_prime_UTR_variant | ENSG00000108244 | 225 | ENSG00000108244 | 218 | 218 | ENSG00000108244 | 5_prime_UTR_variant | NA | NA | |
17 | 40,978,276 | G | A | false | missense_variant | 813 | rs16968862 | 0.000167 | 0.1158 | 159.01 | missense_variant | missense_variant | ENSG00000204889 | 0 | ENSG00000204889 | 0 | 0 | ENSG00000204889 | missense_variant | ENSG00000204889 | 6,049 | ENSG00000204889 | 8,724 | 6,049 | ENSG00000204889 | missense_variant | NA | NA | |
17 | 40,978,837 | G | A | false | missense_variant | 813 | rs11649834 | 0.000192 | 0.13685 | 218.48 | missense_variant | missense_variant | ENSG00000204889 | 0 | ENSG00000204889 | 0 | 0 | ENSG00000204889 | missense_variant | ENSG00000204889 | 5,488 | ENSG00000204889 | 8,163 | 5,488 | ENSG00000204889 | missense_variant | NA | NA | |
17 | 41,018,423 | C | A | false | tss_proximal | 929 | rs12602858 | 0.000243 | 0.10294 | 162 | intron_variant | CA_flank | ENSG00000221852 | 7,602 | ENSG00000212901 | 842 | 842 | ENSG00000212901 | tss_proximal | ENSG00000221852 | 8,784 | ENSG00000212901 | 900 | 900 | ENSG00000212901 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 41,019,007 | A | T | false | tss_proximal | 929 | rs7214011 | 0.000239 | 0.103 | 161.98 | intron_variant | CA_flank | ENSG00000221852 | 7,018 | ENSG00000212901 | 258 | 258 | ENSG00000212901 | tss_proximal | ENSG00000221852 | 8,200 | ENSG00000212901 | 316 | 316 | ENSG00000212901 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 41,019,465 | G | A | false | tss_proximal | 929 | rs113336484 | 0.000246 | 0.10291 | 162 | upstream_gene_variant | CA_flank | ENSG00000221852 | 6,560 | ENSG00000212901 | 140 | 140 | ENSG00000212901 | tss_proximal | ENSG00000221852 | 7,742 | ENSG00000212901 | 140 | 140 | ENSG00000212901 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 41,019,822 | G | A | false | tss_proximal | 929 | rs8074224 | 0.000247 | 0.10291 | 162 | upstream_gene_variant | CA | ENSG00000221852 | 6,203 | ENSG00000212901 | 497 | 497 | ENSG00000212901 | tss_proximal | ENSG00000221852 | 7,385 | ENSG00000212901 | 497 | 497 | ENSG00000212901 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 41,019,960 | T | A | false | tss_proximal | 929 | rs8080036 | 0.000293 | 0.10067 | 161.17 | upstream_gene_variant | dELS_flank | ENSG00000221852 | 6,065 | ENSG00000212901 | 635 | 635 | ENSG00000212901 | tss_proximal | ENSG00000221852 | 7,247 | ENSG00000212901 | 635 | 635 | ENSG00000212901 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 41,059,767 | G | A | false | missense_variant | 815 | rs12937861 | 0.000537 | 0.12213 | 210.21 | missense_variant | missense_variant | ENSG00000212724 | 0 | ENSG00000237230 | 12,178 | 0 | ENSG00000212724 | missense_variant | ENSG00000212724 | 346 | ENSG00000237230 | 12,178 | 346 | ENSG00000212724 | missense_variant | NA | NA | |
17 | 41,082,998 | T | A | false | distal | 844 | rs140263835 | 0.000053 | 0.012874 | 42.06 | intergenic_variant | pELS_flank | ENSG00000240871 | 1,151 | ENSG00000287602 | 7,339 | 1,151 | ENSG00000240871 | pELS_flank | ENSG00000240871 | 1,151 | ENSG00000287602 | 7,339 | 1,151 | ENSG00000240871 | distal | NA | NA | |
17 | 41,108,586 | C | G | false | distal | 857 | rs143755596 | 0.000311 | 0.006034 | 20.736 | intergenic_variant | dELS_flank | ENSG00000212722 | 2,097 | ENSG00000287602 | 15,339 | 2,097 | ENSG00000212722 | dELS_flank | ENSG00000212722 | 3,196 | ENSG00000287602 | 18,247 | 3,196 | ENSG00000212722 | distal | NA | NA | |
17 | 41,370,206 | C | T | false | tss_proximal | 901 | rs113346725 | 0.000109 | 0.03817 | 110.67 | upstream_gene_variant | pELS | ENSG00000131738 | 392 | ENSG00000234859 | 32,209 | 392 | ENSG00000131738 | tss_proximal | ENSG00000131738 | 392 | ENSG00000234859 | 32,209 | 392 | ENSG00000131738 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 41,370,375 | C | T | false | tss_proximal | 901 | rs78063979 | 0.000109 | 0.03817 | 110.67 | upstream_gene_variant | pELS_flank | ENSG00000131738 | 561 | ENSG00000234859 | 32,040 | 561 | ENSG00000131738 | tss_proximal | ENSG00000131738 | 561 | ENSG00000234859 | 32,040 | 561 | ENSG00000131738 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 41,395,511 | G | A | false | missense_variant | 830 | rs112544857 | 0.000046 | 0.023994 | 90.425 | missense_variant | missense_variant | ENSG00000094796 | 0 | ENSG00000234859 | 6,904 | 0 | ENSG00000094796 | missense_variant | ENSG00000094796 | 2,096 | ENSG00000234859 | 6,904 | 2,096 | ENSG00000094796 | missense_variant | NA | NA | |
17 | 41,396,004 | C | T | false | distal | 844 | rs80269162 | 0.000044 | 0.013383 | 46.344 | intron_variant | pELS_flank | ENSG00000094796 | 380 | ENSG00000234859 | 6,411 | 380 | ENSG00000094796 | pELS_flank | ENSG00000094796 | 1,603 | ENSG00000234859 | 6,411 | 1,603 | ENSG00000094796 | distal | NA | NA | |
17 | 41,424,564 | G | C | false | 5_prime_UTR_variant | 891 | rs72485487 | 0.002614 | 0.17144 | 406.34 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000108417 | 0 | ENSG00000234859 | 0 | 0 | ENSG00000108417 | 5_prime_UTR_variant | ENSG00000108417 | 20 | ENSG00000225438 | 12,788 | 20 | ENSG00000108417 | 5_prime_UTR_variant | NA | NA | |
17 | 41,429,744 | C | T | false | distal | 919 | rs76012296 | 0.00289 | 0.17155 | 406.07 | intergenic_variant | CA_flank | ENSG00000108417 | 5,158 | ENSG00000234859 | 4,694 | 4,694 | ENSG00000234859 | CA_flank | ENSG00000108417 | 5,158 | ENSG00000225438 | 17,968 | 5,158 | ENSG00000108417 | distal | NA | NA | |
17 | 41,437,516 | A | G | false | missense_variant | 815 | rs897416 | 0.000074 | 0.09788 | 94.472 | missense_variant | missense_variant | ENSG00000171360 | 0 | ENSG00000236473 | 10,666 | 0 | ENSG00000171360 | missense_variant | ENSG00000171360 | 3,466 | ENSG00000236473 | 16,538 | 3,466 | ENSG00000171360 | missense_variant | NA | NA |
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