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 | 81,977,026 | G | C | false | tss_proximal | 867 | rs41283357 | 0.000198 | 0.028406 | 54.998 | intron_variant | PLS_flank | ENSG00000169696 | 46 | ENSG00000169696 | 575 | 46 | ENSG00000169696 | tss_proximal | ENSG00000169696 | 218 | ENSG00000169696 | 575 | 218 | ENSG00000169696 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 82,010,515 | T | C | true | tss_proximal | 904 | rs58866411 | 0.99169 | Height | 0.46723 | 69.69 | intron_variant | CA-H3K4me3_flank | ENSG00000169696 | 286 | ENSG00000169696 | 286 | 286 | ENSG00000169696 | tss_proximal | ENSG00000169696 | 295 | ENSG00000169696 | 1,028 | 295 | ENSG00000169696 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 82,018,706 | G | A | false | 3_prime_UTR_variant | 918 | rs72861729 | 0.000166 | 0.17242 | 63.674 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000169689 | 0 | ENSG00000169689 | 9 | 0 | ENSG00000169689 | 3_prime_UTR_variant | ENSG00000169689 | 4,151 | ENSG00000169696 | 2,511 | 2,511 | ENSG00000169696 | 3_prime_UTR_variant | NA | NA | |
17 | 82,032,369 | G | A | false | 5_prime_UTR_variant | 886 | rs528509306 | 0.00008 | 0.006391 | 19.472 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000169750 | 0 | ENSG00000169750 | 508 | 0 | ENSG00000169750 | 5_prime_UTR_variant | ENSG00000169750 | 184 | ENSG00000169750 | 508 | 184 | ENSG00000169750 | 5_prime_UTR_variant | NA | NA | |
17 | 82,035,188 | C | G | false | missense_variant | 817 | rs9903371 | 0.006119 | 0.1222 | 115.8 | missense_variant | missense_variant | ENSG00000169738 | 0 | ENSG00000279372 | 214 | 0 | ENSG00000169738 | missense_variant | ENSG00000169738 | 1,223 | ENSG00000279372 | 611 | 611 | ENSG00000279372 | missense_variant | NA | NA | |
17 | 82,101,883 | A | G | false | splicing | 909 | rs151218780 | 0.000044 | 0.002329 | 10.789 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000176155 | 16 | ENSG00000176155 | 16 | 16 | ENSG00000176155 | splice_polypyrimidine_tract_variant | ENSG00000176155 | 32 | ENSG00000169710 | 3,736 | 32 | ENSG00000176155 | splicing | NA | splicing:b1 | |
17 | 82,177,852 | C | A | false | distal | 877 | rs34153075 | 0.006268 | 0.33749 | 279.79 | intron_variant | dELS | ENSG00000176155 | 621 | ENSG00000176155 | 621 | 621 | ENSG00000176155 | dELS | ENSG00000176155 | 6,119 | ENSG00000176155 | 2,187 | 2,187 | ENSG00000176155 | distal | NA | NA | |
17 | 82,188,309 | T | C | false | missense_variant | 833 | rs7406116 | 0.001109 | 0.02711 | 82.621 | missense_variant | missense_variant | ENSG00000176155 | 0 | ENSG00000176155 | 0 | 0 | ENSG00000176155 | missense_variant | ENSG00000176155 | 16,576 | ENSG00000176155 | 3,136 | 3,136 | ENSG00000176155 | missense_variant | NA | NA | |
17 | 82,250,992 | G | A | false | non_coding_transcript_exon_variant | 864 | rs562375645 | 0.00014 | 0.005902 | 177.59 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000141551 | 386 | ENSG00000280407 | 0 | 0 | ENSG00000280407 | non_coding_transcript_exon_variant | ENSG00000141526 | 13,821 | ENSG00000141551 | 421 | 421 | ENSG00000141551 | non_coding_transcript_exon_variant | NA | NA | |
17 | 82,251,716 | T | C | false | non_coding_transcript_exon_variant | 864 | rs7406962 | 0.000125 | 0.006883 | 167.28 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000141551 | 188 | ENSG00000280407 | 0 | 0 | ENSG00000280407 | non_coding_transcript_exon_variant | ENSG00000141526 | 14,545 | ENSG00000141551 | 301 | 301 | ENSG00000141551 | non_coding_transcript_exon_variant | NA | NA | |
17 | 82,322,337 | C | A | false | missense_variant | 838 | rs17855476 | 0.000062 | 0.008837 | 24.658 | missense_variant | missense_variant | ENSG00000141574 | 0 | ENSG00000141574 | 0 | 0 | ENSG00000141574 | missense_variant | ENSG00000173762 | 4,728 | ENSG00000173762 | 4,783 | 4,728 | ENSG00000173762 | missense_variant | NA | NA | |
17 | 82,323,064 | T | C | false | distal | 849 | rs114200658 | 0.000097 | 0.001893 | 28.658 | intron_variant | dELS_flank | ENSG00000141574 | 52 | ENSG00000141574 | 52 | 52 | ENSG00000141574 | dELS_flank | ENSG00000141574 | 5,441 | ENSG00000173762 | 5,510 | 5,441 | ENSG00000141574 | distal | NA | NA | |
17 | 82,362,979 | G | A | false | 3_prime_UTR_variant | 913 | rs72856174 | 0.000136 | 0.01449 | 20.386 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000182459 | 0 | ENSG00000278964 | 0 | 0 | ENSG00000182459 | 3_prime_UTR_variant | ENSG00000182459 | 3,731 | ENSG00000278964 | 216 | 216 | ENSG00000278964 | 3_prime_UTR_variant | NA | NA | |
17 | 82,369,049 | G | A | false | distal | 854 | rs112228049 | 0.001313 | 0.26966 | 119.67 | intergenic_variant | dELS_flank | ENSG00000181408 | 2,715 | ENSG00000278964 | 5,852 | 2,715 | ENSG00000181408 | dELS_flank | ENSG00000181408 | 2,715 | ENSG00000278964 | 5,852 | 2,715 | ENSG00000181408 | distal | NA | NA | |
17 | 82,372,233 | C | T | false | tss_proximal | 897 | rs77272176 | 0.002004 | 0.042813 | 216.4 | intron_variant | pELS | ENSG00000181408 | 185 | ENSG00000260011 | 8,876 | 185 | ENSG00000181408 | tss_proximal | ENSG00000181408 | 467 | ENSG00000278964 | 9,036 | 467 | ENSG00000181408 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 82,428,077 | C | T | false | missense_variant | 812 | rs141719287 | 0.001048 | 0.007474 | 23.323 | missense_variant | missense_variant | ENSG00000169660 | 480 | ENSG00000169660 | 0 | 0 | ENSG00000169660 | missense_variant | ENSG00000169660 | 4,766 | ENSG00000279066 | 2,578 | 2,578 | ENSG00000279066 | missense_variant | NA | NA | |
17 | 82,437,192 | G | A | false | missense_variant | 814 | rs61978618 | 0.000047 | 0.002261 | 5.7766 | missense_variant | missense_variant | ENSG00000169660 | 0 | ENSG00000169660 | 0 | 0 | ENSG00000169660 | missense_variant | ENSG00000169660 | 462 | ENSG00000169660 | 22 | 22 | ENSG00000169660 | missense_variant | NA | NA | |
17 | 82,442,222 | C | T | false | missense_variant | 812 | rs116902484 | 0.000222 | 0.006955 | 33.006 | missense_variant | missense_variant | ENSG00000169660 | 0 | ENSG00000178927 | 0 | 0 | ENSG00000169660 | missense_variant | ENSG00000169660 | 5,492 | ENSG00000169660 | 2,107 | 2,107 | ENSG00000169660 | missense_variant | NA | NA | |
17 | 82,446,075 | C | T | false | missense_variant | 835 | rs72857478 | 0.000328 | 0.031719 | 40.379 | missense_variant | missense_variant | ENSG00000178927 | 114 | ENSG00000178927 | 0 | 0 | ENSG00000178927 | missense_variant | ENSG00000178927 | 3,529 | ENSG00000178927 | 123 | 123 | ENSG00000178927 | missense_variant | NA | NA | |
17 | 82,480,289 | G | A | false | tss_proximal | 898 | rs901375 | 0.002088 | 0.14363 | 55.641 | intron_variant | pELS | ENSG00000141562 | 117 | ENSG00000141562 | 178 | 117 | ENSG00000141562 | tss_proximal | ENSG00000141562 | 791 | ENSG00000141562 | 178 | 178 | ENSG00000141562 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 82,520,527 | C | T | false | tss_proximal | 902 | rs76235422 | 0.000921 | 0.18772 | 77.45 | intron_variant | pELS | ENSG00000141568 | 219 | ENSG00000141568 | 219 | 219 | ENSG00000141568 | tss_proximal | ENSG00000141568 | 794 | ENSG00000141568 | 232 | 232 | ENSG00000141568 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 82,570,005 | G | A | false | distal | 861 | rs112974026 | 0.000171 | 0.13795 | 65.145 | intron_variant | dELS_flank | ENSG00000141568 | 1,718 | ENSG00000141568 | 1,718 | 1,718 | ENSG00000141568 | dELS_flank | ENSG00000141568 | 10,640 | ENSG00000265136 | 7,385 | 7,385 | ENSG00000265136 | distal | NA | NA | |
17 | 82,621,733 | T | C | false | missense_variant | 833 | rs74895287 | 0.000045 | 0.017181 | 30.832 | missense_variant | missense_variant | ENSG00000141580 | 0 | ENSG00000141580 | 0 | 0 | ENSG00000141580 | missense_variant | ENSG00000141580 | 26,710 | ENSG00000141580 | 2,648 | 2,648 | ENSG00000141580 | missense_variant | NA | NA | |
17 | 82,655,185 | T | G | false | 3_prime_UTR_variant | 914 | rs2011631 | 0.000439 | 0.14571 | 67.345 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141542 | 0 | ENSG00000141542 | 0 | 0 | ENSG00000141542 | 3_prime_UTR_variant | ENSG00000141542 | 5,845 | ENSG00000141542 | 1,695 | 1,695 | ENSG00000141542 | 3_prime_UTR_variant | NA | NA | |
17 | 82,741,362 | A | G | true | missense_variant | 838 | rs145500346 | 0.999975 | HbA1c | 0.010589 | 29.085 | missense_variant | missense_variant | ENSG00000167363 | 0 | ENSG00000167363 | 0 | 0 | ENSG00000167363 | missense_variant | ENSG00000167363 | 5,746 | ENSG00000262410 | 3,705 | 3,705 | ENSG00000262410 | missense_variant | NA | NA |
17 | 82,837,749 | G | A | false | distal | 875 | rs28706217 | 0.000156 | 0.42501 | 297.31 | intron_variant | dELS | ENSG00000141579 | 2,177 | ENSG00000141556 | 7,834 | 2,177 | ENSG00000141579 | dELS | ENSG00000141579 | 2,272 | ENSG00000141556 | 7,834 | 2,272 | ENSG00000141579 | distal | NA | NA | |
17 | 82,895,739 | C | T | false | missense_variant | 811 | rs4986084 | 0.000352 | 0.26336 | 303.81 | missense_variant | missense_variant | ENSG00000141556 | 0 | ENSG00000141556 | 85 | 0 | ENSG00000141556 | missense_variant | ENSG00000141556 | 2,630 | ENSG00000141556 | 85 | 85 | ENSG00000141556 | missense_variant | NA | NA | |
17 | 83,021,090 | C | T | false | distal | 928 | rs60513657 | 0.001903 | 0.13293 | 101.18 | intron_variant | CA-CTCF_flank | ENSG00000175711 | 6,570 | ENSG00000175711 | 6,570 | 6,570 | ENSG00000175711 | CA-CTCF_flank | ENSG00000175711 | 28,075 | ENSG00000175711 | 14,101 | 14,101 | ENSG00000175711 | distal | NA | NA | |
17 | 83,075,998 | T | C | false | distal | 851 | rs7223506 | 0.000846 | 0.32386 | 62.631 | intergenic_variant | dELS_flank | ENSG00000176845 | 3,610 | ENSG00000176845 | 16,394 | 3,610 | ENSG00000176845 | dELS_flank | ENSG00000176845 | 3,610 | ENSG00000176845 | 16,394 | 3,610 | ENSG00000176845 | distal | NA | NA | |
17 | 83,128,066 | C | G | true | distal | 862 | rs9902102 | 0.99992 | Mono | 0.4679 | 59.693 | intergenic_variant | dELS_flank | ENSG00000176845 | 32,943 | ENSG00000288807 | 2,276 | 2,276 | ENSG00000288807 | dELS_flank | ENSG00000176845 | 33,816 | ENSG00000288807 | 2,738 | 2,738 | ENSG00000288807 | distal | NA | NA |
19 | 287,703 | G | A | false | missense_variant | 1,030 | rs61745392 | 0.000149 | 0.008698 | 10.755 | missense_variant | missense_variant | ENSG00000141934 | 0 | ENSG00000141934 | 0 | 0 | ENSG00000141934 | missense_variant | ENSG00000141934 | 66 | ENSG00000141934 | 833 | 66 | ENSG00000141934 | missense_variant | NA | NA | |
19 | 289,547 | C | G | false | distal | 998 | rs28534823 | 0.001036 | 0.3076 | 50.782 | intron_variant | pELS_flank | ENSG00000141934 | 1,357 | ENSG00000141934 | 1,008 | 1,008 | ENSG00000141934 | pELS_flank | ENSG00000141934 | 1,637 | ENSG00000141934 | 1,008 | 1,008 | ENSG00000141934 | distal | NA | NA | |
19 | 295,746 | G | A | false | distal | 1,066 | rs35892447 | 0.000739 | 0.29052 | 24.035 | intergenic_variant | dELS | ENSG00000141934 | 4,342 | ENSG00000141934 | 7,207 | 4,342 | ENSG00000141934 | dELS | ENSG00000141934 | 4,342 | ENSG00000141934 | 7,207 | 4,342 | ENSG00000141934 | distal | NA | NA | |
19 | 327,998 | G | T | false | splicing | 1,132 | rs2305113 | 0.00038 | 0.22358 | 52.795 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000105556 | 8 | ENSG00000105556 | 8 | 8 | ENSG00000105556 | splice_polypyrimidine_tract_variant | ENSG00000105556 | 16,797 | ENSG00000105556 | 8,195 | 8,195 | ENSG00000105556 | splicing | NA | splicing:b1 | |
19 | 438,421 | C | T | false | tss_proximal | 1,095 | rs73507731 | 0.000127 | 0.006769 | 26.949 | intron_variant | CA-H3K4me3_flank | ENSG00000129946 | 296 | ENSG00000129946 | 296 | 296 | ENSG00000129946 | tss_proximal | ENSG00000129946 | 22,611 | ENSG00000129946 | 845 | 845 | ENSG00000129946 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 477,809 | C | T | false | distal | 1,077 | rs4919900 | 0.000162 | 0.19986 | 58.733 | intergenic_variant | dELS | ENSG00000181781 | 2,825 | ENSG00000181781 | 5,193 | 2,825 | ENSG00000181781 | dELS | ENSG00000181781 | 2,825 | ENSG00000181781 | 5,193 | 2,825 | ENSG00000181781 | distal | NA | NA | |
19 | 498,524 | A | G | false | synonymous_variant | 1,061 | rs2302217 | 0.000053 | 0.45625 | 33.536 | synonymous_variant | synonymous_variant | ENSG00000099866 | 0 | ENSG00000099866 | 0 | 0 | ENSG00000099866 | synonymous_variant | ENSG00000099866 | 2,023 | ENSG00000099866 | 706 | 706 | ENSG00000099866 | synonymous_variant | NA | NA | |
19 | 506,920 | A | G | false | tss_proximal | 988 | rs11085079 | 0.000472 | 0.4759 | 28.901 | intron_variant | pELS | ENSG00000141933 | 576 | ENSG00000266933 | 455 | 455 | ENSG00000266933 | tss_proximal | ENSG00000141933 | 576 | ENSG00000141933 | 579 | 576 | ENSG00000141933 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 528,079 | G | A | false | distal | 1,071 | rs142016537 | 0.000046 | 0.11754 | 24.09 | intergenic_variant | dELS | ENSG00000099804 | 3,680 | ENSG00000099804 | 3,689 | 3,680 | ENSG00000099804 | dELS | ENSG00000099804 | 3,680 | ENSG00000099804 | 3,689 | 3,680 | ENSG00000099804 | distal | NA | NA | |
19 | 532,347 | C | T | false | tss_proximal | 990 | rs12985200 | 0.000215 | 0.02252 | 19.639 | intron_variant | pELS | ENSG00000099804 | 238 | ENSG00000099804 | 238 | 238 | ENSG00000099804 | tss_proximal | ENSG00000099804 | 246 | ENSG00000099804 | 577 | 246 | ENSG00000099804 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 538,160 | A | G | false | distal | 1,039 | rs8107361 | 0.000045 | 0.07064 | 40.507 | intron_variant | dELS_flank | ENSG00000099804 | 1,012 | ENSG00000099804 | 1,012 | 1,012 | ENSG00000099804 | dELS_flank | ENSG00000099804 | 2,322 | ENSG00000099804 | 1,206 | 1,206 | ENSG00000099804 | distal | NA | NA | |
19 | 539,279 | C | T | false | distal | 1,081 | rs2288956 | 0.001388 | 0.2823 | 30.409 | intron_variant | dELS | ENSG00000099804 | 2,059 | ENSG00000099804 | 1,937 | 1,937 | ENSG00000099804 | dELS | ENSG00000099804 | 3,441 | ENSG00000099804 | 1,937 | 1,937 | ENSG00000099804 | distal | NA | NA | |
19 | 541,133 | G | A | false | tss_proximal | 1,097 | rs12609463 | 0.000168 | 0.080832 | 21.117 | intron_variant | CA-CTCF | ENSG00000099804 | 205 | ENSG00000099804 | 83 | 83 | ENSG00000099804 | tss_proximal | ENSG00000197540 | 2,900 | ENSG00000099804 | 83 | 83 | ENSG00000099804 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 547,561 | G | A | false | distal | 1,077 | rs2070797 | 0.000082 | 0.1897 | 32.302 | intron_variant | dELS | ENSG00000197540 | 124 | ENSG00000099804 | 5,518 | 124 | ENSG00000197540 | dELS | ENSG00000197540 | 3,507 | ENSG00000099804 | 6,343 | 3,507 | ENSG00000197540 | distal | NA | NA | |
19 | 548,612 | G | A | false | missense_variant | 1,012 | rs114537924 | 0.0001 | 0.040019 | 9.3372 | missense_variant | missense_variant | ENSG00000197540 | 0 | ENSG00000099804 | 6,569 | 0 | ENSG00000197540 | missense_variant | ENSG00000197540 | 4,558 | ENSG00000099804 | 7,394 | 4,558 | ENSG00000197540 | missense_variant | NA | NA | |
19 | 571,320 | T | G | false | 5_prime_UTR_variant | 1,098 | rs28989769 | 0.000066 | 0.064397 | 43.758 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000172270 | 0 | ENSG00000267751 | 119 | 0 | ENSG00000172270 | 5_prime_UTR_variant | ENSG00000172270 | 9 | ENSG00000267751 | 407 | 9 | ENSG00000172270 | 5_prime_UTR_variant | NA | NA | |
19 | 571,397 | G | A | false | 5_prime_UTR_variant | 1,098 | rs28989772 | 0.000064 | 0.066008 | 44.897 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000172270 | 0 | ENSG00000267751 | 42 | 0 | ENSG00000172270 | 5_prime_UTR_variant | ENSG00000172270 | 86 | ENSG00000267751 | 330 | 86 | ENSG00000172270 | 5_prime_UTR_variant | NA | NA | |
19 | 580,388 | C | G | false | missense_variant | 1,025 | rs2229664 | 0.000076 | 0.085134 | 65.633 | missense_variant | missense_variant | ENSG00000172270 | 0 | ENSG00000172270 | 0 | 0 | ENSG00000172270 | missense_variant | ENSG00000172270 | 5,174 | ENSG00000172270 | 258 | 258 | ENSG00000172270 | missense_variant | NA | NA | |
19 | 580,810 | T | C | false | tss_proximal | 1,093 | rs10422916 | 0.000157 | 0.47362 | 57.812 | intron_variant | dELS_flank | ENSG00000172270 | 27 | ENSG00000172270 | 27 | 27 | ENSG00000172270 | tss_proximal | ENSG00000172270 | 5,596 | ENSG00000172270 | 162 | 162 | ENSG00000172270 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
19 | 582,505 | G | A | false | splicing | 1,131 | rs2072309 | 0.000055 | 0.23262 | 50.829 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000172270 | 8 | ENSG00000172270 | 0 | 0 | ENSG00000172270 | splice_polypyrimidine_tract_variant | ENSG00000172270 | 7,291 | ENSG00000172270 | 1,857 | 1,857 | ENSG00000172270 | splicing | NA | splicing:b1 | |
19 | 593,609 | G | A | false | distal | 1,081 | rs4919866 | 0.000306 | 0.28555 | 38.731 | intron_variant | dELS | ENSG00000099822 | 3,031 | ENSG00000267036 | 2,308 | 2,308 | ENSG00000267036 | dELS | ENSG00000099822 | 3,727 | ENSG00000267036 | 2,308 | 2,308 | ENSG00000267036 | distal | NA | NA | |
19 | 624,683 | A | G | false | tss_proximal | 1,093 | rs2285853 | 0.00232 | 0.4628 | 52.965 | intron_variant | dELS_flank | ENSG00000099821 | 35 | ENSG00000099821 | 35 | 35 | ENSG00000099821 | tss_proximal | ENSG00000099821 | 5,485 | ENSG00000099821 | 825 | 825 | ENSG00000099821 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
19 | 625,081 | G | C | false | tss_proximal | 1,093 | rs2285855 | 0.002338 | 0.46281 | 52.966 | intron_variant | dELS_flank | ENSG00000099821 | 42 | ENSG00000099821 | 42 | 42 | ENSG00000099821 | tss_proximal | ENSG00000099821 | 5,087 | ENSG00000099821 | 427 | 427 | ENSG00000099821 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
19 | 642,839 | C | T | false | distal | 1,081 | rs11085151 | 0.000121 | 0.28265 | 29.481 | intron_variant | dELS | ENSG00000070388 | 395 | ENSG00000070388 | 1,248 | 395 | ENSG00000070388 | dELS | ENSG00000070388 | 2,943 | ENSG00000070388 | 2,959 | 2,943 | ENSG00000070388 | distal | NA | NA | |
19 | 651,852 | C | T | false | missense_variant | 1,016 | rs2285751 | 0.000084 | 0.05278 | 14.799 | missense_variant | missense_variant | ENSG00000070423 | 0 | ENSG00000070423 | 0 | 0 | ENSG00000070423 | missense_variant | ENSG00000070423 | 11,361 | ENSG00000070423 | 1,257 | 1,257 | ENSG00000070423 | missense_variant | NA | NA | |
19 | 652,238 | A | G | false | synonymous_variant | 1,057 | rs11554788 | 0.000223 | 0.37933 | 14.783 | synonymous_variant | synonymous_variant | ENSG00000070423 | 0 | ENSG00000070423 | 0 | 0 | ENSG00000070423 | synonymous_variant | ENSG00000070423 | 10,975 | ENSG00000070423 | 1,643 | 1,643 | ENSG00000070423 | synonymous_variant | NA | NA | |
19 | 682,073 | G | A | false | 3_prime_UTR_variant | 1,109 | rs72976224 | 0.000404 | 0.036173 | 56.584 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000070404 | 0 | ENSG00000070404 | 301 | 0 | ENSG00000070404 | 3_prime_UTR_variant | ENSG00000070404 | 1,321 | ENSG00000070404 | 4,011 | 1,321 | ENSG00000070404 | 3_prime_UTR_variant | NA | NA | |
19 | 685,833 | G | T | false | synonymous_variant | 1,063 | rs56125026 | 0.000332 | 0.036766 | 57.246 | synonymous_variant | synonymous_variant | ENSG00000185198 | 0 | ENSG00000070404 | 4,061 | 0 | ENSG00000185198 | synonymous_variant | ENSG00000070404 | 5,081 | ENSG00000213726 | 4,519 | 4,519 | ENSG00000213726 | synonymous_variant | NA | NA | |
19 | 717,486 | T | C | false | distal | 1,066 | rs2238552 | 0.004013 | 0.28681 | 31.591 | intron_variant | dELS | ENSG00000099864 | 1,613 | ENSG00000099864 | 5,017 | 1,613 | ENSG00000099864 | dELS | ENSG00000099864 | 1,613 | ENSG00000099864 | 5,017 | 1,613 | ENSG00000099864 | distal | NA | NA | |
19 | 731,144 | A | G | false | missense_variant | 1,003 | rs1050457 | 0.000372 | 0.45138 | 48.304 | missense_variant | missense_variant | ENSG00000099864 | 0 | ENSG00000099864 | 0 | 0 | ENSG00000099864 | missense_variant | ENSG00000099864 | 3,885 | ENSG00000099864 | 51 | 51 | ENSG00000099864 | missense_variant | NA | NA | |
19 | 737,123 | A | T | false | distal | 1,076 | rs2283584 | 0.000757 | 0.42979 | 41.133 | intron_variant | dELS | ENSG00000099864 | 1,044 | ENSG00000099864 | 983 | 983 | ENSG00000099864 | dELS | ENSG00000099864 | 2,089 | ENSG00000099864 | 2,067 | 2,067 | ENSG00000099864 | distal | NA | NA | |
19 | 781,129 | G | A | false | non_coding_transcript_exon_variant | 982 | rs117821352 | 0.000857 | 0.039435 | 15.231 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000011304 | 15,945 | ENSG00000272473 | 0 | 0 | ENSG00000272473 | non_coding_transcript_exon_variant | ENSG00000011304 | 15,945 | ENSG00000272473 | 1,521 | 1,521 | ENSG00000272473 | non_coding_transcript_exon_variant | NA | NA | |
19 | 791,828 | G | A | false | distal | 1,078 | rs57758528 | 0.000969 | 0.20099 | 20.567 | intergenic_variant | dELS | ENSG00000011304 | 5,246 | ENSG00000011304 | 5,569 | 5,246 | ENSG00000011304 | dELS | ENSG00000011304 | 5,246 | ENSG00000011304 | 5,569 | 5,246 | ENSG00000011304 | distal | NA | NA | |
19 | 807,442 | G | C | true | non_coding_transcript_exon_variant | 978 | rs123698 | 0.99999 | GGT,Hb,Ht,Mono | 0.39693 | 41.531 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000011304 | 426 | ENSG00000011304 | 0 | 0 | ENSG00000011304 | non_coding_transcript_exon_variant | ENSG00000011304 | 2,818 | ENSG00000011304 | 416 | 416 | ENSG00000011304 | non_coding_transcript_exon_variant | NA | NA |
19 | 811,320 | C | T | false | 3_prime_UTR_variant | 1,107 | rs78940050 | 0.002917 | 0.045205 | 37.607 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000011304 | 0 | ENSG00000011304 | 0 | 0 | ENSG00000011304 | 3_prime_UTR_variant | ENSG00000129951 | 3,590 | ENSG00000263414 | 2,263 | 2,263 | ENSG00000263414 | 3_prime_UTR_variant | NA | NA | |
19 | 850,793 | T | A | false | tss_proximal | 983 | rs3761005 | 0.000111 | 0.329 | 13.462 | upstream_gene_variant | pELS | ENSG00000197561 | 220 | ENSG00000175221 | 17,170 | 220 | ENSG00000197561 | tss_proximal | ENSG00000197561 | 220 | ENSG00000263414 | 37,208 | 220 | ENSG00000197561 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 851,976 | G | A | true | tss_proximal | 983 | rs2007647 | 0.954575 | Baso | 0.24602 | 37.118 | intron_variant | PLS_flank | ENSG00000197561 | 232 | ENSG00000175221 | 15,987 | 232 | ENSG00000197561 | tss_proximal | ENSG00000197561 | 326 | ENSG00000263414 | 38,391 | 326 | ENSG00000197561 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 860,453 | C | G | false | tss_proximal | 983 | rs55855648 | 0.001321 | 0.27628 | 44.868 | intron_variant | pELS_flank | ENSG00000197766 | 163 | ENSG00000175221 | 7,510 | 163 | ENSG00000197766 | tss_proximal | ENSG00000197766 | 788 | ENSG00000175221 | 32,704 | 788 | ENSG00000197766 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 862,355 | G | C | false | tss_proximal | 983 | rs62132300 | 0.001294 | 0.27782 | 45.046 | intron_variant | dELS | ENSG00000197766 | 398 | ENSG00000175221 | 5,608 | 398 | ENSG00000197766 | tss_proximal | ENSG00000197766 | 655 | ENSG00000175221 | 30,802 | 655 | ENSG00000197766 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 862,396 | G | T | false | tss_proximal | 983 | rs62132301 | 0.001643 | 0.27833 | 45.352 | intron_variant | dELS | ENSG00000197766 | 439 | ENSG00000175221 | 5,567 | 439 | ENSG00000197766 | tss_proximal | ENSG00000197766 | 696 | ENSG00000175221 | 30,761 | 696 | ENSG00000197766 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 867,735 | A | G | false | 3_prime_UTR_variant | 1,112 | rs1683593 | 0.000373 | 0.28627 | 74.539 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000197766 | 0 | ENSG00000175221 | 228 | 0 | ENSG00000197766 | 3_prime_UTR_variant | ENSG00000175221 | 3,330 | ENSG00000175221 | 25,422 | 3,330 | ENSG00000175221 | 3_prime_UTR_variant | NA | NA | |
19 | 867,872 | G | A | false | 3_prime_UTR_variant | 1,112 | rs34828577 | 0.00034 | 0.32891 | 60.652 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000197766 | 0 | ENSG00000175221 | 91 | 0 | ENSG00000197766 | 3_prime_UTR_variant | ENSG00000175221 | 3,193 | ENSG00000175221 | 25,285 | 3,193 | ENSG00000175221 | 3_prime_UTR_variant | NA | NA | |
19 | 898,373 | C | G | false | distal | 1,049 | rs112109465 | 0.002888 | 0.1701 | 30.488 | intron_variant | dELS_flank | ENSG00000198858 | 832 | ENSG00000198858 | 832 | 832 | ENSG00000198858 | dELS_flank | ENSG00000175221 | 5,154 | ENSG00000198858 | 2,862 | 2,862 | ENSG00000198858 | distal | NA | NA | |
19 | 900,951 | A | G | false | missense_variant | 1,015 | rs78580402 | 0.000328 | 0.012594 | 15.241 | missense_variant | missense_variant | ENSG00000198858 | 0 | ENSG00000198858 | 0 | 0 | ENSG00000198858 | missense_variant | ENSG00000175221 | 7,732 | ENSG00000198858 | 284 | 284 | ENSG00000198858 | missense_variant | NA | NA | |
19 | 901,507 | A | G | false | missense_variant | 1,015 | rs77971861 | 0.000876 | 0.012705 | 15.437 | missense_variant | missense_variant | ENSG00000198858 | 0 | ENSG00000198858 | 0 | 0 | ENSG00000198858 | missense_variant | ENSG00000175221 | 8,288 | ENSG00000198858 | 270 | 270 | ENSG00000198858 | missense_variant | NA | NA | |
19 | 905,893 | T | C | false | distal | 1,071 | rs34358367 | 0.001867 | 0.12546 | 36.335 | intron_variant | dELS | ENSG00000198858 | 3,265 | ENSG00000198858 | 3,265 | 3,265 | ENSG00000198858 | dELS | ENSG00000198858 | 7,263 | ENSG00000198858 | 3,482 | 3,482 | ENSG00000198858 | distal | NA | NA | |
19 | 906,149 | G | C | false | distal | 1,054 | rs1637869 | 0.000453 | 0.18259 | 34.748 | intron_variant | dELS_flank | ENSG00000198858 | 3,521 | ENSG00000198858 | 3,521 | 3,521 | ENSG00000198858 | dELS_flank | ENSG00000198858 | 7,007 | ENSG00000198858 | 3,738 | 3,738 | ENSG00000198858 | distal | NA | NA | |
19 | 908,929 | G | A | false | distal | 1,071 | rs112378464 | 0.002601 | 0.12606 | 36.382 | intron_variant | dELS | ENSG00000198858 | 4,157 | ENSG00000198858 | 4,157 | 4,157 | ENSG00000198858 | dELS | ENSG00000198858 | 4,227 | ENSG00000198858 | 4,221 | 4,221 | ENSG00000198858 | distal | NA | NA | |
19 | 923,744 | G | A | false | distal | 1,079 | rs350134 | 0.008504 | 0.2917 | 41.053 | intergenic_variant | dELS | ENSG00000116017 | 2,290 | ENSG00000116017 | 2,036 | 2,036 | ENSG00000116017 | dELS | ENSG00000116017 | 2,290 | ENSG00000116017 | 2,036 | 2,036 | ENSG00000116017 | distal | NA | NA | |
19 | 923,830 | T | C | false | distal | 1,079 | rs350135 | 0.006204 | 0.29041 | 41.058 | intergenic_variant | dELS | ENSG00000116017 | 2,204 | ENSG00000116017 | 1,950 | 1,950 | ENSG00000116017 | dELS | ENSG00000116017 | 2,204 | ENSG00000116017 | 1,950 | 1,950 | ENSG00000116017 | distal | NA | NA | |
19 | 930,721 | A | G | false | distal | 998 | rs145848515 | 0.000081 | 0.30968 | 20.123 | intron_variant | pELS_flank | ENSG00000116017 | 824 | ENSG00000116017 | 1,222 | 824 | ENSG00000116017 | pELS_flank | ENSG00000116017 | 1,787 | ENSG00000116017 | 1,843 | 1,787 | ENSG00000116017 | distal | NA | NA | |
19 | 934,437 | T | A | false | distal | 1,050 | rs75046450 | 0.004405 | 0.004395 | 25.31 | intron_variant | dELS_flank | ENSG00000116017 | 1,694 | ENSG00000116017 | 1,694 | 1,694 | ENSG00000116017 | dELS_flank | ENSG00000116017 | 1,927 | ENSG00000116017 | 1,871 | 1,871 | ENSG00000116017 | distal | NA | NA | |
19 | 964,652 | C | T | false | tss_proximal | 1,095 | rs140658511 | 0.000075 | 0.00961 | 12.328 | intron_variant | dELS_flank | ENSG00000116017 | 180 | ENSG00000116017 | 180 | 180 | ENSG00000116017 | tss_proximal | ENSG00000065268 | 19,679 | ENSG00000116017 | 362 | 362 | ENSG00000116017 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 988,668 | T | C | false | distal | 1,079 | rs3815157 | 0.000493 | 0.29064 | 67.835 | intron_variant | dELS | ENSG00000065268 | 1,093 | ENSG00000065268 | 1,093 | 1,093 | ENSG00000065268 | dELS | ENSG00000065268 | 4,289 | ENSG00000065268 | 1,978 | 1,978 | ENSG00000065268 | distal | NA | NA | |
19 | 989,040 | G | C | false | distal | 1,049 | rs3815161 | 0.000543 | 0.16434 | 66.207 | intron_variant | dELS_flank | ENSG00000065268 | 721 | ENSG00000065268 | 721 | 721 | ENSG00000065268 | dELS_flank | ENSG00000065268 | 4,661 | ENSG00000065268 | 1,606 | 1,606 | ENSG00000065268 | distal | NA | NA | |
19 | 989,041 | C | T | false | distal | 1,049 | rs3815162 | 0.000543 | 0.16434 | 66.207 | intron_variant | dELS_flank | ENSG00000065268 | 720 | ENSG00000065268 | 720 | 720 | ENSG00000065268 | dELS_flank | ENSG00000065268 | 4,662 | ENSG00000065268 | 1,605 | 1,605 | ENSG00000065268 | distal | NA | NA | |
19 | 995,283 | A | G | false | distal | 1,038 | rs10425117 | 0.001076 | 0.32456 | 73.249 | intron_variant | dELS_flank | ENSG00000065268 | 725 | ENSG00000065268 | 725 | 725 | ENSG00000065268 | dELS_flank | ENSG00000116032 | 5,135 | ENSG00000065268 | 1,268 | 1,268 | ENSG00000065268 | distal | NA | NA | |
19 | 1,003,173 | C | T | false | missense_variant | 1,024 | rs2240154 | 0.002946 | 0.15258 | 44.19 | missense_variant | missense_variant | ENSG00000116032 | 0 | ENSG00000266990 | 415 | 0 | ENSG00000116032 | missense_variant | ENSG00000116032 | 2,753 | ENSG00000266990 | 415 | 415 | ENSG00000266990 | missense_variant | NA | NA | |
19 | 1,004,711 | C | T | false | missense_variant | 1,010 | rs4807399 | 0.001922 | 0.46341 | 50.262 | missense_variant | missense_variant | ENSG00000116032 | 0 | ENSG00000116032 | 90 | 0 | ENSG00000116032 | missense_variant | ENSG00000116032 | 4,291 | ENSG00000116032 | 175 | 175 | ENSG00000116032 | missense_variant | NA | NA | |
19 | 1,009,366 | T | A | false | missense_variant | 1,003 | rs10417824 | 0.00082 | 0.4457 | 58.172 | missense_variant | missense_variant | ENSG00000116032 | 0 | ENSG00000182087 | 281 | 0 | ENSG00000116032 | missense_variant | ENSG00000182087 | 2,625 | ENSG00000274177 | 854 | 854 | ENSG00000274177 | missense_variant | NA | NA | |
19 | 1,010,692 | A | G | false | synonymous_variant | 1,058 | rs2240159 | 0.002479 | 0.42039 | 62.92 | synonymous_variant | synonymous_variant | ENSG00000182087 | 0 | ENSG00000182087 | 0 | 0 | ENSG00000182087 | synonymous_variant | ENSG00000182087 | 1,299 | ENSG00000274177 | 470 | 470 | ENSG00000274177 | synonymous_variant | NA | NA | |
19 | 1,010,756 | G | A | false | missense_variant | 1,001 | rs10401738 | 0.000078 | 0.010681 | 14.802 | missense_variant | missense_variant | ENSG00000182087 | 0 | ENSG00000182087 | 0 | 0 | ENSG00000182087 | missense_variant | ENSG00000182087 | 1,235 | ENSG00000274177 | 534 | 534 | ENSG00000274177 | missense_variant | NA | NA | |
19 | 1,010,808 | G | T | false | missense_variant | 1,021 | rs1058810 | 0.000146 | 0.015614 | 42.246 | missense_variant | missense_variant | ENSG00000182087 | 0 | ENSG00000182087 | 0 | 0 | ENSG00000182087 | missense_variant | ENSG00000182087 | 1,183 | ENSG00000182087 | 547 | 547 | ENSG00000182087 | missense_variant | NA | NA | |
19 | 1,010,911 | T | C | false | splicing | 1,131 | rs7252527 | 0.000602 | 0.24224 | 65.635 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000182087 | 15 | ENSG00000182087 | 0 | 0 | ENSG00000182087 | splice_polypyrimidine_tract_variant | ENSG00000182087 | 1,080 | ENSG00000182087 | 444 | 444 | ENSG00000182087 | splicing | NA | splicing:b1 | |
19 | 1,021,250 | C | T | false | tss_proximal | 987 | rs1005505 | 0.002643 | 0.15297 | 48.268 | upstream_gene_variant | PLS | ENSG00000182087 | 126 | ENSG00000182087 | 70 | 70 | ENSG00000182087 | tss_proximal | ENSG00000182087 | 126 | ENSG00000182087 | 70 | 70 | ENSG00000182087 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 1,021,689 | C | T | false | tss_proximal | 994 | rs75840974 | 0.000585 | 0.025715 | 45.842 | upstream_gene_variant | PLS | ENSG00000182087 | 565 | ENSG00000207357 | 60 | 60 | ENSG00000207357 | tss_proximal | ENSG00000182087 | 565 | ENSG00000207357 | 166 | 166 | ENSG00000207357 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 1,023,868 | G | C | true | distal | 995 | rs8102732 | 0.954865 | Eosino | 0.4644 | 64.396 | intergenic_variant | pELS_flank | ENSG00000064666 | 2,717 | ENSG00000207357 | 2,239 | 2,239 | ENSG00000207357 | pELS_flank | ENSG00000064666 | 2,717 | ENSG00000207357 | 2,345 | 2,345 | ENSG00000207357 | distal | NA | NA |
19 | 1,024,078 | T | C | false | distal | 1,040 | rs4807436 | 0.00044 | 0.13633 | 44.168 | intergenic_variant | dELS_flank | ENSG00000064666 | 2,507 | ENSG00000207357 | 2,449 | 2,449 | ENSG00000207357 | dELS_flank | ENSG00000064666 | 2,507 | ENSG00000064666 | 2,550 | 2,507 | ENSG00000064666 | distal | NA | NA | |
19 | 1,026,478 | G | T | true | tss_proximal | 984 | rs4807440 | 0.99579 | Mono | 0.36153 | 53.649 | upstream_gene_variant | PLS | ENSG00000064666 | 107 | ENSG00000064666 | 150 | 107 | ENSG00000064666 | tss_proximal | ENSG00000064666 | 107 | ENSG00000064666 | 150 | 107 | ENSG00000064666 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 1,039,324 | C | G | false | tss_proximal | 987 | rs111278892 | 0.001009 | 0.15409 | 48.07 | upstream_gene_variant | PLS_flank | ENSG00000064666 | 255 | ENSG00000279753 | 259 | 255 | ENSG00000064666 | tss_proximal | ENSG00000064687 | 782 | ENSG00000279753 | 259 | 259 | ENSG00000279753 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.