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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 67,377,216 | T | A | false | distal | 3 | rs4655541 | 0.000037 | 0.28797 | 134.54 | intron_variant | dELS_flank | ENSG00000081985 | 2,769 | ENSG00000081985 | 2,711 | 2,711 | ENSG00000081985 | dELS_flank | ENSG00000142864 | 53,155 | ENSG00000081985 | 2,711 | 2,711 | ENSG00000081985 | distal | NA | NA | |
1 | 67,383,066 | G | A | false | distal | 3 | rs12032123 | 0.000092 | 0.29128 | 134.63 | intron_variant | dELS_flank | ENSG00000081985 | 2,942 | ENSG00000081985 | 2,803 | 2,803 | ENSG00000081985 | dELS_flank | ENSG00000142864 | 47,305 | ENSG00000081985 | 3,137 | 3,137 | ENSG00000081985 | distal | NA | NA | |
1 | 67,515,437 | C | T | false | distal | 54 | rs11209097 | 0.000061 | 0.14682 | 71.268 | intergenic_variant | dELS | ENSG00000142864 | 85,021 | ENSG00000235200 | 6,861 | 6,861 | ENSG00000235200 | dELS | ENSG00000142864 | 85,021 | ENSG00000235200 | 6,861 | 6,861 | ENSG00000235200 | distal | NA | NA | |
1 | 67,622,756 | A | G | true | distal | 157 | rs787488 | 0.984685 | CRP | 0.2729 | 56.7 | intergenic_variant | intergenic_variant | ENSG00000116717 | 62,444 | ENSG00000242482 | 34,074 | 34,074 | ENSG00000242482 | intergenic_variant | ENSG00000116717 | 62,444 | ENSG00000242482 | 34,372 | 34,372 | ENSG00000242482 | distal | NA | NA |
1 | 67,832,710 | C | G | false | tss_proximal | 142 | rs7537084 | 0.000224 | 0.27896 | 170.94 | intron_variant | PLS_flank | ENSG00000172380 | 633 | ENSG00000232284 | 273 | 273 | ENSG00000232284 | tss_proximal | ENSG00000172380 | 756 | ENSG00000232284 | 400 | 400 | ENSG00000232284 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 67,832,765 | G | A | false | tss_proximal | 142 | rs7537276 | 0.000226 | 0.27892 | 170.93 | intron_variant | PLS_flank | ENSG00000172380 | 578 | ENSG00000232284 | 328 | 328 | ENSG00000232284 | tss_proximal | ENSG00000172380 | 701 | ENSG00000232284 | 455 | 455 | ENSG00000232284 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 67,887,776 | G | A | false | distal | 66 | rs187032619 | 0.00004 | 0.001878 | 11.732 | intron_variant | dELS | ENSG00000172380 | 54,308 | ENSG00000232284 | 14,454 | 14,454 | ENSG00000232284 | dELS | ENSG00000172380 | 54,308 | ENSG00000172380 | 54,339 | 54,308 | ENSG00000172380 | distal | NA | NA | |
1 | 67,888,240 | A | G | false | distal | 66 | rs17130342 | 0.00003 | 0.018371 | 74.179 | intron_variant | dELS | ENSG00000172380 | 54,772 | ENSG00000232284 | 14,918 | 14,918 | ENSG00000232284 | dELS | ENSG00000172380 | 54,772 | ENSG00000172380 | 54,803 | 54,772 | ENSG00000172380 | distal | NA | NA | |
1 | 67,888,513 | T | C | false | distal | 66 | rs1344149 | 0.00003 | 0.018437 | 74.128 | intron_variant | dELS | ENSG00000172380 | 55,045 | ENSG00000232284 | 15,191 | 15,191 | ENSG00000232284 | dELS | ENSG00000172380 | 55,045 | ENSG00000172380 | 55,076 | 55,045 | ENSG00000172380 | distal | NA | NA | |
1 | 67,888,932 | C | T | false | distal | 66 | rs151046933 | 0.000017 | 0.002938 | 18.9 | intron_variant | dELS | ENSG00000172380 | 55,464 | ENSG00000232284 | 15,610 | 15,610 | ENSG00000232284 | dELS | ENSG00000172380 | 55,464 | ENSG00000172380 | 55,495 | 55,464 | ENSG00000172380 | distal | NA | NA | |
1 | 67,889,049 | G | C | false | distal | 66 | rs141295446 | 0.000325 | 0.012599 | 13.216 | intron_variant | dELS | ENSG00000172380 | 55,581 | ENSG00000232284 | 15,727 | 15,727 | ENSG00000232284 | dELS | ENSG00000172380 | 55,581 | ENSG00000172380 | 55,612 | 55,581 | ENSG00000172380 | distal | NA | NA | |
1 | 68,047,216 | C | A | false | missense_variant | 87 | rs35600387 | 0.0006 | 0.026909 | 64.505 | missense_variant | missense_variant | ENSG00000162595 | 0 | ENSG00000228431 | 2,143 | 0 | ENSG00000162595 | missense_variant | ENSG00000162595 | 3,410 | ENSG00000228431 | 2,528 | 2,528 | ENSG00000228431 | missense_variant | NA | NA | |
1 | 68,050,752 | T | C | false | 5_prime_UTR_variant | 127 | rs982462 | 0.000027 | 0.008315 | 87.318 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000162595 | 0 | ENSG00000228431 | 1,006 | 0 | ENSG00000162595 | 5_prime_UTR_variant | ENSG00000162595 | 124 | ENSG00000228431 | 1,006 | 124 | ENSG00000162595 | 5_prime_UTR_variant | NA | NA | |
1 | 68,197,460 | C | T | false | distal | 13 | rs919540 | 0.001431 | 0.33296 | 51.201 | intron_variant | dELS_flank | ENSG00000116729 | 3,232 | ENSG00000116729 | 3,232 | 3,232 | ENSG00000116729 | dELS_flank | ENSG00000116729 | 34,226 | ENSG00000221203 | 13,849 | 13,849 | ENSG00000221203 | distal | NA | NA | |
1 | 68,199,340 | T | C | true | distal | 13 | rs7554551 | 1 | eBMD | 0.34494 | 23.909 | intron_variant | dELS_flank | ENSG00000116729 | 5,112 | ENSG00000232284 | 2,628 | 2,628 | ENSG00000232284 | dELS_flank | ENSG00000116729 | 32,346 | ENSG00000221203 | 15,729 | 15,729 | ENSG00000221203 | distal | NA | NA |
1 | 68,280,186 | G | A | false | distal | 50 | rs12022923 | 0.000021 | 0.27742 | 108.19 | intergenic_variant | dELS | ENSG00000116729 | 47,065 | ENSG00000225242 | 2,201 | 2,201 | ENSG00000225242 | dELS | ENSG00000116729 | 47,065 | ENSG00000225242 | 2,201 | 2,201 | ENSG00000225242 | distal | NA | NA | |
1 | 69,103,460 | T | C | false | distal | 46 | rs6671705 | 0.000012 | 0.43081 | 107.42 | intron_variant | dELS | ENSG00000033122 | 464,461 | ENSG00000223883 | 14,897 | 14,897 | ENSG00000223883 | dELS | ENSG00000033122 | 464,461 | ENSG00000223883 | 47,556 | 47,556 | ENSG00000223883 | distal | NA | NA | |
1 | 70,106,915 | C | A | false | tss_proximal | 166 | rs114602856 | 0.000015 | 0.008878 | 18.131 | intron_variant | intron_variant | ENSG00000033122 | 836 | ENSG00000033122 | 834 | 834 | ENSG00000033122 | tss_proximal | ENSG00000066557 | 98,663 | ENSG00000033122 | 834 | 834 | ENSG00000033122 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 70,108,069 | G | C | false | tss_proximal | 166 | rs143982089 | 0.000012 | 0.007987 | 23.929 | intron_variant | intron_variant | ENSG00000033122 | 242 | ENSG00000033122 | 242 | 242 | ENSG00000033122 | tss_proximal | ENSG00000066557 | 97,509 | ENSG00000033122 | 318 | 318 | ENSG00000033122 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 70,421,416 | A | G | false | distal | 52 | rs672203 | 0.000017 | 0.36302 | 98.764 | intron_variant | dELS | ENSG00000116761 | 149 | ENSG00000116761 | 149 | 149 | ENSG00000116761 | dELS | ENSG00000116761 | 10,032 | ENSG00000278636 | 9,479 | 9,479 | ENSG00000278636 | distal | NA | NA | |
1 | 70,430,950 | G | A | false | non_coding_transcript_exon_variant | 117 | rs148278621 | 0.000014 | 0.05715 | 48.225 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000116761 | 555 | ENSG00000278636 | 0 | 0 | ENSG00000278636 | non_coding_transcript_exon_variant | ENSG00000116761 | 19,566 | ENSG00000278636 | 53 | 53 | ENSG00000278636 | non_coding_transcript_exon_variant | NA | NA | |
1 | 70,947,757 | A | G | false | tss_proximal | 179 | rs1409984 | 0.000212 | 0.14831 | 156.35 | intron_variant | pELS | ENSG00000050628 | 4,674 | ENSG00000235782 | 281 | 281 | ENSG00000235782 | tss_proximal | ENSG00000050628 | 99,875 | ENSG00000235782 | 377 | 377 | ENSG00000235782 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 74,109,498 | C | T | false | missense_variant | 85 | rs1340472 | 0.000013 | 0.07264 | 154.37 | missense_variant | missense_variant | ENSG00000162620 | 0 | ENSG00000162620 | 0 | 0 | ENSG00000162620 | missense_variant | ENSG00000162620 | 34,707 | ENSG00000162620 | 46,350 | 34,707 | ENSG00000162620 | missense_variant | NA | NA | |
1 | 74,623,227 | A | G | false | missense_variant | 89 | rs1417586 | 0.000018 | 0.1057 | 91.607 | missense_variant | missense_variant | ENSG00000178965 | 2,312 | ENSG00000234497 | 0 | 0 | ENSG00000234497 | missense_variant | ENSG00000178965 | 11,627 | ENSG00000178965 | 11,513 | 11,513 | ENSG00000178965 | missense_variant | NA | NA | |
1 | 74,708,200 | A | G | false | non_coding_transcript_exon_variant | 117 | rs60887187 | 0.000057 | 0.051747 | 61.535 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000116791 | 995 | ENSG00000116791 | 0 | 0 | ENSG00000116791 | non_coding_transcript_exon_variant | ENSG00000116791 | 24,610 | ENSG00000116791 | 626 | 626 | ENSG00000116791 | non_coding_transcript_exon_variant | NA | NA | |
1 | 75,254,995 | A | G | false | distal | 149 | rs191242429 | 0.000033 | 0.002102 | 50.132 | intron_variant | intron_variant | ENSG00000137968 | 3,700 | ENSG00000137968 | 3,700 | 3,700 | ENSG00000137968 | intron_variant | ENSG00000162624 | 120,606 | ENSG00000206999 | 71,949 | 71,949 | ENSG00000206999 | distal | NA | NA | |
1 | 75,255,024 | A | G | false | distal | 149 | rs74371152 | 0.000016 | 0.001484 | 7.6697 | intron_variant | intron_variant | ENSG00000137968 | 3,729 | ENSG00000137968 | 3,729 | 3,729 | ENSG00000137968 | intron_variant | ENSG00000162624 | 120,635 | ENSG00000206999 | 71,978 | 71,978 | ENSG00000206999 | distal | NA | NA | |
1 | 75,255,479 | A | T | false | distal | 149 | rs142569403 | 0.000168 | 0.013158 | 43.463 | intron_variant | intron_variant | ENSG00000137968 | 4,184 | ENSG00000137968 | 4,184 | 4,184 | ENSG00000137968 | intron_variant | ENSG00000162624 | 121,090 | ENSG00000206999 | 72,433 | 72,433 | ENSG00000206999 | distal | NA | NA | |
1 | 75,538,967 | C | T | false | tss_proximal | 179 | rs4080327 | 0.000027 | 0.15021 | 198.35 | intron_variant | pELS_flank | ENSG00000137968 | 2,467 | ENSG00000252338 | 847 | 847 | ENSG00000252338 | tss_proximal | ENSG00000137968 | 72,116 | ENSG00000252338 | 847 | 847 | ENSG00000252338 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 75,539,093 | T | A | false | tss_proximal | 179 | rs17375756 | 0.000027 | 0.15021 | 198.35 | intron_variant | pELS_flank | ENSG00000137968 | 2,341 | ENSG00000252338 | 973 | 973 | ENSG00000252338 | tss_proximal | ENSG00000137968 | 71,990 | ENSG00000252338 | 973 | 973 | ENSG00000252338 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 75,765,382 | G | A | false | distal | 13 | rs6593515 | 0.000754 | 0.34 | 400.59 | intron_variant | dELS_flank | ENSG00000117054 | 1,661 | ENSG00000117054 | 1,661 | 1,661 | ENSG00000117054 | dELS_flank | ENSG00000137955 | 20,848 | ENSG00000117054 | 14,930 | 14,930 | ENSG00000117054 | distal | NA | NA | |
1 | 75,932,287 | C | T | false | missense_variant | 96 | rs3795251 | 0.000032 | 0.37954 | 349.28 | missense_variant | missense_variant | ENSG00000154007 | 0 | ENSG00000225605 | 166 | 0 | ENSG00000154007 | missense_variant | ENSG00000154007 | 116 | ENSG00000225605 | 166 | 116 | ENSG00000154007 | missense_variant | NA | NA | |
1 | 76,303,045 | G | A | false | distal | 27 | rs12407837 | 0.000028 | 0.22553 | 62.635 | intron_variant | dELS | ENSG00000184005 | 10,754 | ENSG00000184005 | 10,867 | 10,754 | ENSG00000184005 | dELS | ENSG00000184005 | 10,754 | ENSG00000184005 | 10,867 | 10,754 | ENSG00000184005 | distal | NA | NA | |
1 | 76,303,048 | C | A | false | distal | 27 | rs200800502 | 0.000028 | 0.22553 | 62.635 | intron_variant | dELS | ENSG00000184005 | 10,751 | ENSG00000184005 | 10,864 | 10,751 | ENSG00000184005 | dELS | ENSG00000184005 | 10,751 | ENSG00000184005 | 10,864 | 10,751 | ENSG00000184005 | distal | NA | NA | |
1 | 77,128,431 | C | G | false | tss_proximal | 178 | rs55957022 | 0.000169 | 0.035561 | 156.53 | intron_variant | intron_variant | ENSG00000142892 | 6,071 | ENSG00000226084 | 682 | 682 | ENSG00000226084 | tss_proximal | ENSG00000142892 | 90,997 | ENSG00000226084 | 682 | 682 | ENSG00000226084 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 77,128,921 | T | C | false | tss_proximal | 178 | rs72681900 | 0.000065 | 0.031347 | 164.29 | intron_variant | intron_variant | ENSG00000142892 | 6,561 | ENSG00000226084 | 192 | 192 | ENSG00000226084 | tss_proximal | ENSG00000142892 | 90,507 | ENSG00000226084 | 192 | 192 | ENSG00000226084 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 77,245,545 | C | T | false | distal | 16 | rs145702072 | 0.000029 | 0.001329 | 20.943 | intergenic_variant | dELS_flank | ENSG00000142892 | 26,114 | ENSG00000287870 | 3,087 | 3,087 | ENSG00000287870 | dELS_flank | ENSG00000142892 | 26,114 | ENSG00000287870 | 3,087 | 3,087 | ENSG00000287870 | distal | NA | NA | |
1 | 77,270,824 | C | G | false | distal | 27 | rs2815332 | 0.000426 | 0.22643 | 150.54 | intergenic_variant | dELS | ENSG00000154027 | 11,194 | ENSG00000154027 | 11,233 | 11,194 | ENSG00000154027 | dELS | ENSG00000154027 | 11,194 | ENSG00000154027 | 11,233 | 11,194 | ENSG00000154027 | distal | NA | NA | |
1 | 77,542,967 | C | A | false | distal | 64 | rs12724560 | 0.000055 | 0.21533 | 213.73 | intron_variant | dELS | ENSG00000154027 | 6,928 | ENSG00000154027 | 2,277 | 2,277 | ENSG00000154027 | dELS | ENSG00000154027 | 10,859 | ENSG00000154027 | 2,470 | 2,470 | ENSG00000154027 | distal | NA | NA | |
1 | 77,632,318 | A | T | false | missense_variant | 106 | rs41292270 | 0.000264 | 0.025593 | 55.377 | missense_variant | missense_variant | ENSG00000036549 | 0 | ENSG00000036549 | 0 | 0 | ENSG00000036549 | missense_variant | ENSG00000036549 | 50,339 | ENSG00000036549 | 396 | 396 | ENSG00000036549 | missense_variant | NA | NA | |
1 | 77,632,718 | T | C | false | missense_variant | 106 | rs34535037 | 0.000047 | 0.012616 | 60.633 | missense_variant | missense_variant | ENSG00000036549 | 0 | ENSG00000036549 | 0 | 0 | ENSG00000036549 | missense_variant | ENSG00000036549 | 49,939 | ENSG00000036549 | 157 | 157 | ENSG00000036549 | missense_variant | NA | NA | |
1 | 77,776,953 | A | G | false | distal | 56 | rs2147318 | 0.002342 | 0.22475 | 260.63 | intergenic_variant | dELS | ENSG00000180488 | 2,670 | ENSG00000232672 | 2,088 | 2,088 | ENSG00000232672 | dELS | ENSG00000180488 | 2,670 | ENSG00000232672 | 2,088 | 2,088 | ENSG00000232672 | distal | NA | NA | |
1 | 77,898,142 | C | T | false | distal | 146 | rs151034482 | 0.000105 | 0.022376 | 173.69 | intron_variant | intron_variant | ENSG00000162614 | 9,382 | ENSG00000235927 | 8,602 | 8,602 | ENSG00000235927 | intron_variant | ENSG00000162614 | 9,479 | ENSG00000235927 | 8,602 | 8,602 | ENSG00000235927 | distal | NA | NA | |
1 | 77,971,031 | C | A | false | distal | 6 | rs72685364 | 0.000484 | 0.13386 | 242.94 | intron_variant | dELS_flank | ENSG00000162613 | 1,015 | ENSG00000162613 | 1,015 | 1,015 | ENSG00000162613 | dELS_flank | ENSG00000162613 | 8,040 | ENSG00000162613 | 8,055 | 8,040 | ENSG00000162613 | distal | NA | NA | |
1 | 77,984,833 | C | A | true | distal | 45 | rs34517439 | 0.999775 | ALP,BW,Height | 0.12432 | 131.78 | intron_variant | dELS | ENSG00000162616 | 4,510 | ENSG00000162616 | 3,530 | 3,530 | ENSG00000162616 | dELS | ENSG00000162616 | 4,648 | ENSG00000137960 | 5,290 | 4,648 | ENSG00000162616 | distal | NA | NA |
1 | 78,482,226 | G | A | false | distal | 146 | rs77707038 | 0.002413 | 0.027457 | 64.037 | intron_variant | intron_variant | ENSG00000122420 | 8,747 | ENSG00000122420 | 8,845 | 8,747 | ENSG00000122420 | intron_variant | ENSG00000122420 | 8,747 | ENSG00000122420 | 8,845 | 8,747 | ENSG00000122420 | distal | NA | NA | |
1 | 78,629,997 | A | G | false | missense_variant | 72 | rs185745103 | 0.000709 | 0.003955 | 10.241 | missense_variant | missense_variant | ENSG00000137959 | 0 | ENSG00000137959 | 81 | 0 | ENSG00000137959 | missense_variant | ENSG00000137959 | 2,011 | ENSG00000137959 | 361 | 361 | ENSG00000137959 | missense_variant | NA | NA | |
1 | 78,657,409 | G | A | false | distal | 145 | rs7514391 | 0.000054 | 0.41344 | 110.69 | intron_variant | intron_variant | ENSG00000137965 | 1,897 | ENSG00000137965 | 1,897 | 1,897 | ENSG00000137965 | intron_variant | ENSG00000137965 | 5,325 | ENSG00000137965 | 1,909 | 1,909 | ENSG00000137965 | distal | NA | NA | |
1 | 78,946,283 | C | A | true | missense_variant | 84 | rs41313381 | 0.99995 | Neutro,WBC | 0.031176 | 43.284 | missense_variant | missense_variant | ENSG00000162618 | 0 | ENSG00000162618 | 0 | 0 | ENSG00000162618 | missense_variant | ENSG00000162618 | 28,397 | ENSG00000162618 | 23,954 | 23,954 | ENSG00000162618 | missense_variant | NA | NA |
1 | 79,020,326 | T | C | false | distal | 28 | rs6693037 | 0.000022 | 0.2257 | 101.79 | intron_variant | dELS | ENSG00000162618 | 4,840 | ENSG00000162618 | 3,330 | 3,330 | ENSG00000162618 | dELS | ENSG00000162618 | 7,884 | ENSG00000162618 | 7,896 | 7,884 | ENSG00000162618 | distal | NA | NA | |
1 | 79,189,417 | A | C | false | tss_proximal | 140 | rs17590370 | 0.000081 | 0.060285 | 106.6 | intron_variant | dELS_flank | ENSG00000162618 | 933 | ENSG00000162618 | 943 | 933 | ENSG00000162618 | tss_proximal | ENSG00000162618 | 933 | ENSG00000162618 | 943 | 933 | ENSG00000162618 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 81,875,183 | G | T | false | distal | 68 | rs113466679 | 0.000011 | 0.021344 | 46.938 | intron_variant | dELS | ENSG00000117114 | 31,833 | ENSG00000117114 | 31,833 | 31,833 | ENSG00000117114 | dELS | ENSG00000117114 | 67,785 | ENSG00000117114 | 74,215 | 67,785 | ENSG00000117114 | distal | NA | NA | |
1 | 81,876,651 | T | C | false | distal | 68 | rs72717787 | 0.000023 | 0.023914 | 33.889 | intron_variant | dELS | ENSG00000117114 | 30,365 | ENSG00000117114 | 30,365 | 30,365 | ENSG00000117114 | dELS | ENSG00000117114 | 66,317 | ENSG00000117114 | 75,683 | 66,317 | ENSG00000117114 | distal | NA | NA | |
1 | 81,966,500 | G | T | false | missense_variant | 113 | rs141656433 | 0.000045 | 0.000757 | 6.6418 | missense_variant | missense_variant | ENSG00000117114 | 0 | ENSG00000117114 | 0 | 0 | ENSG00000117114 | missense_variant | ENSG00000117114 | 13,388 | ENSG00000117114 | 645 | 645 | ENSG00000117114 | missense_variant | NA | NA | |
1 | 81,990,901 | G | A | false | missense_variant | 99 | rs41292984 | 0.000019 | 0.033395 | 71.142 | missense_variant | missense_variant | ENSG00000117114 | 0 | ENSG00000117114 | 0 | 0 | ENSG00000117114 | missense_variant | ENSG00000117114 | 11,011 | ENSG00000117114 | 2,508 | 2,508 | ENSG00000117114 | missense_variant | NA | NA | |
1 | 81,998,345 | T | G | false | distal | 51 | rs12041960 | 0.000044 | 0.15681 | 121.05 | intergenic_variant | dELS | ENSG00000117114 | 4,412 | ENSG00000117114 | 5,908 | 4,412 | ENSG00000117114 | dELS | ENSG00000117114 | 18,455 | ENSG00000117114 | 9,952 | 9,952 | ENSG00000117114 | distal | NA | NA | |
1 | 82,504,087 | A | G | false | distal | 46 | rs12734849 | 0.000064 | 0.49676 | 77.916 | intron_variant | dELS | ENSG00000117114 | 510,154 | ENSG00000233290 | 16,762 | 16,762 | ENSG00000233290 | dELS | ENSG00000117114 | 524,197 | ENSG00000233290 | 51,463 | 51,463 | ENSG00000233290 | distal | NA | NA | |
1 | 82,505,303 | C | T | false | distal | 46 | rs978593 | 0.00008 | 0.49651 | 78.118 | intron_variant | dELS | ENSG00000117114 | 511,370 | ENSG00000233290 | 17,978 | 17,978 | ENSG00000233290 | dELS | ENSG00000117114 | 525,413 | ENSG00000233290 | 50,247 | 50,247 | ENSG00000233290 | distal | NA | NA | |
1 | 83,910,225 | T | C | false | distal | 12 | rs138453060 | 0.000019 | 0.008984 | 15.654 | intron_variant | dELS_flank | ENSG00000137941 | 939 | ENSG00000137941 | 939 | 939 | ENSG00000137941 | dELS_flank | ENSG00000137941 | 88,906 | ENSG00000137941 | 2,689 | 2,689 | ENSG00000137941 | distal | NA | NA | |
1 | 83,910,457 | T | C | false | distal | 12 | rs74346130 | 0.000023 | 0.012988 | 45.571 | intron_variant | dELS_flank | ENSG00000137941 | 707 | ENSG00000137941 | 707 | 707 | ENSG00000137941 | dELS_flank | ENSG00000137941 | 88,674 | ENSG00000137941 | 2,522 | 2,522 | ENSG00000137941 | distal | NA | NA | |
1 | 83,951,902 | T | C | false | missense_variant | 106 | rs41293013 | 0.003339 | 0.014266 | 38.935 | missense_variant | missense_variant | ENSG00000137941 | 0 | ENSG00000137941 | 0 | 0 | ENSG00000137941 | missense_variant | ENSG00000137941 | 47,229 | ENSG00000137941 | 24 | 24 | ENSG00000137941 | missense_variant | NA | NA | |
1 | 84,398,573 | G | C | false | missense_variant | 74 | rs3738573 | 0.000138 | 0.34293 | 87.44 | missense_variant | missense_variant | ENSG00000137976 | 0 | ENSG00000240520 | 741 | 0 | ENSG00000137976 | missense_variant | ENSG00000137976 | 88 | ENSG00000240520 | 741 | 88 | ENSG00000137976 | missense_variant | NA | NA | |
1 | 84,458,893 | G | A | false | distal | 156 | rs34760754 | 0.000019 | 0.33405 | 127.53 | intergenic_variant | intergenic_variant | ENSG00000117133 | 20,365 | ENSG00000285361 | 18,145 | 18,145 | ENSG00000285361 | intergenic_variant | ENSG00000117133 | 20,365 | ENSG00000285361 | 18,145 | 18,145 | ENSG00000285361 | distal | NA | NA | |
1 | 84,503,066 | G | T | false | tss_proximal | 181 | rs17110519 | 0.001532 | 0.18541 | 165.1 | intron_variant | dELS_flank | ENSG00000174021 | 1,095 | ENSG00000174021 | 579 | 579 | ENSG00000174021 | tss_proximal | ENSG00000174021 | 3,206 | ENSG00000174021 | 766 | 766 | ENSG00000174021 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 84,504,424 | A | G | false | tss_proximal | 181 | rs3813607 | 0.001645 | 0.18539 | 165.11 | intron_variant | pELS | ENSG00000174021 | 1,586 | ENSG00000174021 | 590 | 590 | ENSG00000174021 | tss_proximal | ENSG00000174021 | 1,848 | ENSG00000174021 | 590 | 590 | ENSG00000174021 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 84,506,416 | G | T | false | splicing | 183 | rs2271620 | 0.001487 | 0.18538 | 165.14 | splice_region_variant | splice_region_variant | ENSG00000174021 | 0 | ENSG00000122432 | 0 | 0 | ENSG00000174021 | splice_region_variant | ENSG00000122432 | 29 | ENSG00000122432 | 18 | 18 | ENSG00000122432 | splicing | NA | splicing:b0 | |
1 | 84,584,041 | C | T | false | distal | 52 | rs2943677 | 0.00003 | 0.34752 | 198.68 | downstream_gene_variant | dELS | ENSG00000117151 | 9,600 | ENSG00000284882 | 420 | 420 | ENSG00000284882 | dELS | ENSG00000117151 | 9,600 | ENSG00000284882 | 9,455 | 9,455 | ENSG00000284882 | distal | NA | NA | |
1 | 84,585,185 | G | C | false | distal | 52 | rs2945160 | 0.000028 | 0.34824 | 198.19 | intergenic_variant | dELS | ENSG00000117151 | 10,744 | ENSG00000284882 | 1,564 | 1,564 | ENSG00000284882 | dELS | ENSG00000117151 | 10,744 | ENSG00000284882 | 10,599 | 10,599 | ENSG00000284882 | distal | NA | NA | |
1 | 84,751,548 | T | C | false | distal | 157 | rs11161445 | 0.000028 | 0.25885 | 47.063 | intergenic_variant | intergenic_variant | ENSG00000171517 | 60,053 | ENSG00000285325 | 33,878 | 33,878 | ENSG00000285325 | intergenic_variant | ENSG00000117155 | 60,744 | ENSG00000285325 | 33,878 | 33,878 | ENSG00000285325 | distal | NA | NA | |
1 | 84,796,242 | A | G | false | distal | 26 | rs4907097 | 0.000027 | 0.38805 | 61.142 | intergenic_variant | dELS | ENSG00000171517 | 15,359 | ENSG00000285325 | 9,527 | 9,527 | ENSG00000285325 | dELS | ENSG00000171517 | 69,916 | ENSG00000285325 | 10,814 | 10,814 | ENSG00000285325 | distal | NA | NA | |
1 | 84,957,858 | A | T | false | distal | 171 | rs498429 | 0.00218 | 0.34052 | 189.46 | intron_variant | CA-CTCF_flank | ENSG00000153898 | 670 | ENSG00000153898 | 670 | 670 | ENSG00000153898 | CA-CTCF_flank | ENSG00000153898 | 39,253 | ENSG00000153898 | 28,013 | 28,013 | ENSG00000153898 | distal | NA | NA | |
1 | 84,958,796 | A | G | false | distal | 171 | rs674182 | 0.002164 | 0.34053 | 189.47 | intron_variant | CA-CTCF_flank | ENSG00000153898 | 93 | ENSG00000153898 | 93 | 93 | ENSG00000153898 | CA-CTCF_flank | ENSG00000153898 | 38,315 | ENSG00000153898 | 28,951 | 28,951 | ENSG00000153898 | distal | NA | NA | |
1 | 84,997,089 | G | C | false | 5_prime_UTR_variant | 129 | rs114037164 | 0.000135 | 0.073654 | 97.438 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000153898 | 0 | ENSG00000153898 | 0 | 0 | ENSG00000153898 | 5_prime_UTR_variant | ENSG00000153898 | 22 | ENSG00000153898 | 23 | 22 | ENSG00000153898 | 5_prime_UTR_variant | NA | NA | |
1 | 85,071,948 | C | G | false | missense_variant | 73 | rs148724953 | 0.00004 | 0.00935 | 17.072 | missense_variant | missense_variant | ENSG00000162643 | 0 | ENSG00000162643 | 0 | 0 | ENSG00000162643 | missense_variant | ENSG00000162643 | 9,620 | ENSG00000162643 | 9,561 | 9,561 | ENSG00000162643 | missense_variant | NA | NA | |
1 | 85,190,248 | C | T | false | missense_variant | 73 | rs61756695 | 0.000033 | 0.019093 | 47.561 | missense_variant | missense_variant | ENSG00000097096 | 0 | ENSG00000097096 | 0 | 0 | ENSG00000097096 | missense_variant | ENSG00000097096 | 10,767 | ENSG00000097096 | 10,264 | 10,264 | ENSG00000097096 | missense_variant | NA | NA | |
1 | 85,276,581 | G | C | false | 5_prime_UTR_variant | 129 | rs61771973 | 0.00003 | 0.074355 | 138.54 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000142867 | 0 | ENSG00000223653 | 0 | 0 | ENSG00000142867 | 5_prime_UTR_variant | ENSG00000142867 | 50 | ENSG00000223653 | 133 | 50 | ENSG00000142867 | 5_prime_UTR_variant | NA | NA | |
1 | 85,412,525 | C | T | false | distal | 1 | rs12138852 | 0.00249 | 0.2136 | 167.54 | intron_variant | dELS_flank | ENSG00000153904 | 7,996 | ENSG00000223653 | 12,561 | 7,996 | ENSG00000153904 | dELS_flank | ENSG00000153904 | 7,996 | ENSG00000199459 | 22,758 | 7,996 | ENSG00000153904 | distal | NA | NA | |
1 | 85,413,930 | A | C | false | distal | 1 | rs12132677 | 0.002832 | 0.21394 | 167.37 | intron_variant | dELS_flank | ENSG00000153904 | 9,401 | ENSG00000223653 | 13,966 | 9,401 | ENSG00000153904 | dELS_flank | ENSG00000153904 | 9,401 | ENSG00000199459 | 21,353 | 9,401 | ENSG00000153904 | distal | NA | NA | |
1 | 85,432,360 | C | T | false | distal | 16 | rs142648243 | 0.000015 | 0.003009 | 8.2247 | intron_variant | dELS_flank | ENSG00000153904 | 27,831 | ENSG00000199459 | 2,814 | 2,814 | ENSG00000199459 | dELS_flank | ENSG00000153904 | 27,831 | ENSG00000199459 | 2,923 | 2,923 | ENSG00000199459 | distal | NA | NA | |
1 | 85,436,236 | A | T | false | tss_proximal | 176 | rs483530 | 0.000057 | 0.4617 | 190.66 | intron_variant | CA_flank | ENSG00000153904 | 28,506 | ENSG00000199459 | 951 | 951 | ENSG00000199459 | tss_proximal | ENSG00000153904 | 28,922 | ENSG00000199459 | 951 | 951 | ENSG00000199459 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 85,436,686 | T | C | false | distal | 22 | rs189476526 | 0.000052 | 0.003222 | 6.5559 | intron_variant | dELS_flank | ENSG00000153904 | 28,056 | ENSG00000199459 | 1,401 | 1,401 | ENSG00000199459 | dELS_flank | ENSG00000153904 | 28,472 | ENSG00000199459 | 1,401 | 1,401 | ENSG00000199459 | distal | NA | NA | |
1 | 85,660,070 | A | G | false | distal | 31 | rs10493773 | 0.000158 | 0.28363 | 187.71 | intron_variant | dELS | ENSG00000117174 | 2,098 | ENSG00000230285 | 59,335 | 2,098 | ENSG00000117174 | dELS | ENSG00000117174 | 48,362 | ENSG00000230285 | 60,938 | 48,362 | ENSG00000117174 | distal | NA | NA | |
1 | 85,736,419 | C | A | false | missense_variant | 89 | rs12037785 | 0.000007 | 0.10087 | 73.474 | missense_variant | missense_variant | ENSG00000171502 | 976 | ENSG00000171502 | 0 | 0 | ENSG00000171502 | missense_variant | ENSG00000117174 | 27,985 | ENSG00000171502 | 8,329 | 8,329 | ENSG00000171502 | missense_variant | NA | NA | |
1 | 86,150,943 | A | G | false | distal | 45 | rs113470777 | 0.000029 | 0.12298 | 97.409 | intron_variant | dELS | ENSG00000171502 | 4,759 | ENSG00000171502 | 3,129 | 3,129 | ENSG00000171502 | dELS | ENSG00000171502 | 5,828 | ENSG00000171502 | 5,819 | 5,819 | ENSG00000171502 | distal | NA | NA | |
1 | 86,382,336 | C | T | false | missense_variant | 113 | rs12032435 | 0.00002 | 0.001101 | 76.756 | missense_variant | missense_variant | ENSG00000122417 | 0 | ENSG00000122417 | 0 | 0 | ENSG00000122417 | missense_variant | ENSG00000122417 | 13,640 | ENSG00000122417 | 742 | 742 | ENSG00000122417 | missense_variant | NA | NA | |
1 | 86,549,125 | T | A | false | distal | 151 | rs72953587 | 0.000011 | 0.10239 | 106.47 | intron_variant | pELS | ENSG00000016602 | 1,846 | ENSG00000224466 | 3,499 | 1,846 | ENSG00000016602 | pELS | ENSG00000016602 | 2,046 | ENSG00000224466 | 4,216 | 2,046 | ENSG00000016602 | distal | NA | NA | |
1 | 86,903,448 | C | A | false | missense_variant | 75 | rs11555169 | 0.000016 | 0.015443 | 21.685 | missense_variant | missense_variant | ENSG00000183291 | 0 | ENSG00000183291 | 0 | 0 | ENSG00000183291 | missense_variant | ENSG00000183291 | 95 | ENSG00000183291 | 10,616 | 95 | ENSG00000183291 | missense_variant | NA | NA | |
1 | 87,279,331 | G | A | false | distal | 66 | rs34222540 | 0.000042 | 0.044363 | 22.844 | intergenic_variant | dELS | ENSG00000143013 | 49,548 | ENSG00000284240 | 14,589 | 14,589 | ENSG00000284240 | dELS | ENSG00000143013 | 49,548 | ENSG00000143013 | 49,767 | 49,548 | ENSG00000143013 | distal | NA | NA | |
1 | 87,761,437 | T | G | true | distal | 14 | rs41461152 | 0.9306 | PrC | 0.30707 | 50.805 | intron_variant | dELS_flank | ENSG00000143013 | 412,513 | ENSG00000237505 | 41,426 | 41,426 | ENSG00000237505 | dELS_flank | ENSG00000143013 | 429,768 | ENSG00000279778 | 46,934 | 46,934 | ENSG00000279778 | distal | NA | NA |
1 | 87,766,433 | A | G | false | distal | 14 | rs305413 | 0.001388 | 0.2584 | 53.981 | intron_variant | dELS_flank | ENSG00000143013 | 417,509 | ENSG00000237505 | 36,430 | 36,430 | ENSG00000237505 | dELS_flank | ENSG00000143013 | 434,764 | ENSG00000279778 | 41,938 | 41,938 | ENSG00000279778 | distal | NA | NA | |
1 | 88,175,380 | A | G | true | distal | 46 | rs6428637 | 0.99399 | Hb,Ht | 0.42134 | 44.304 | intron_variant | dELS | ENSG00000065243 | 508,841 | ENSG00000237505 | 12,266 | 12,266 | ENSG00000237505 | dELS | ENSG00000065243 | 508,841 | ENSG00000237505 | 52,916 | 52,916 | ENSG00000237505 | distal | NA | NA |
1 | 88,175,851 | A | T | false | distal | 46 | rs12725757 | 0.000629 | 0.35246 | 40.381 | intron_variant | dELS | ENSG00000065243 | 508,370 | ENSG00000237505 | 12,737 | 12,737 | ENSG00000237505 | dELS | ENSG00000065243 | 508,370 | ENSG00000237505 | 52,445 | 52,445 | ENSG00000237505 | distal | NA | NA | |
1 | 88,726,947 | G | A | false | distal | 61 | rs67944997 | 0.00016 | 0.017014 | 379.21 | intron_variant | dELS | ENSG00000065243 | 14,040 | ENSG00000237505 | 41,742 | 14,040 | ENSG00000065243 | dELS | ENSG00000065243 | 42,373 | ENSG00000237505 | 41,742 | 41,742 | ENSG00000237505 | distal | NA | NA | |
1 | 88,728,235 | C | T | false | distal | 61 | rs6684950 | 0.000154 | 0.017007 | 379.17 | intron_variant | dELS | ENSG00000065243 | 12,752 | ENSG00000237505 | 43,030 | 12,752 | ENSG00000065243 | dELS | ENSG00000065243 | 43,219 | ENSG00000237505 | 43,030 | 43,030 | ENSG00000237505 | distal | NA | NA | |
1 | 88,827,684 | C | A | false | distal | 145 | rs7534763 | 0.005412 | 0.41892 | 302.26 | intron_variant | intron_variant | ENSG00000065243 | 796 | ENSG00000241975 | 1,417 | 796 | ENSG00000065243 | intron_variant | ENSG00000065243 | 3,337 | ENSG00000241975 | 1,417 | 1,417 | ENSG00000241975 | distal | NA | NA | |
1 | 89,007,770 | A | G | false | missense_variant | 75 | rs114910977 | 0.000042 | 0.016522 | 51.157 | missense_variant | missense_variant | ENSG00000117226 | 0 | ENSG00000117226 | 0 | 0 | ENSG00000117226 | missense_variant | ENSG00000117226 | 4,064 | ENSG00000202385 | 12,594 | 4,064 | ENSG00000117226 | missense_variant | NA | NA | |
1 | 89,044,514 | G | A | false | distal | 162 | rs1886912 | 0.000316 | 0.1743 | 150.18 | intergenic_variant | intergenic_variant | ENSG00000117228 | 7,804 | ENSG00000117228 | 7,367 | 7,367 | ENSG00000117228 | intergenic_variant | ENSG00000117228 | 20,693 | ENSG00000117228 | 10,826 | 10,826 | ENSG00000117228 | distal | NA | NA | |
1 | 89,058,974 | C | G | false | missense_variant | 99 | rs17130717 | 0.000271 | 0.033576 | 36.129 | missense_variant | missense_variant | ENSG00000117228 | 0 | ENSG00000117228 | 0 | 0 | ENSG00000117228 | missense_variant | ENSG00000117228 | 6,233 | ENSG00000117228 | 1,302 | 1,302 | ENSG00000117228 | missense_variant | NA | NA | |
1 | 89,114,258 | T | C | false | missense_variant | 105 | rs2230338 | 0.000318 | 0.33998 | 272.7 | missense_variant | missense_variant | ENSG00000162645 | 0 | ENSG00000162645 | 0 | 0 | ENSG00000162645 | missense_variant | ENSG00000162645 | 11,855 | ENSG00000162645 | 1,207 | 1,207 | ENSG00000162645 | missense_variant | NA | NA | |
1 | 89,117,007 | G | C | false | missense_variant | 105 | rs1803632 | 0.000473 | 0.34047 | 273.73 | missense_variant | missense_variant | ENSG00000162645 | 0 | ENSG00000162645 | 0 | 0 | ENSG00000162645 | missense_variant | ENSG00000162645 | 9,106 | ENSG00000162645 | 3,212 | 3,212 | ENSG00000162645 | missense_variant | NA | NA |
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