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 | 89,117,890 | A | G | false | non_coding_transcript_exon_variant | 120 | rs2209957 | 0.000035 | 0.22552 | 94.89 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162645 | 116 | ENSG00000162645 | 0 | 0 | ENSG00000162645 | non_coding_transcript_exon_variant | ENSG00000162645 | 8,223 | ENSG00000162645 | 2,329 | 2,329 | ENSG00000162645 | non_coding_transcript_exon_variant | NA | NA | |
1 | 89,122,301 | T | C | false | distal | 40 | rs7529400 | 0.000227 | 0.02383 | 141.78 | intron_variant | dELS | ENSG00000162645 | 317 | ENSG00000162645 | 317 | 317 | ENSG00000162645 | dELS | ENSG00000162645 | 3,812 | ENSG00000162645 | 2,080 | 2,080 | ENSG00000162645 | distal | NA | NA | |
1 | 89,199,262 | T | C | false | tss_proximal | 139 | rs647273 | 0.000179 | 0.31925 | 252.96 | intron_variant | PLS_flank | ENSG00000162654 | 319 | ENSG00000284734 | 203 | 203 | ENSG00000284734 | tss_proximal | ENSG00000162654 | 319 | ENSG00000284734 | 547 | 319 | ENSG00000162654 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 89,249,040 | C | G | false | distal | 162 | rs76430645 | 0.000086 | 0.17226 | 69.195 | intergenic_variant | intergenic_variant | ENSG00000154451 | 7,148 | ENSG00000154451 | 9,909 | 7,148 | ENSG00000154451 | intergenic_variant | ENSG00000154451 | 23,763 | ENSG00000237568 | 11,541 | 11,541 | ENSG00000237568 | distal | NA | NA | |
1 | 89,283,706 | G | A | false | distal | 9 | rs641429 | 0.000029 | 0.06596 | 34.217 | intergenic_variant | dELS_flank | ENSG00000154451 | 10,845 | ENSG00000238081 | 5,969 | 5,969 | ENSG00000238081 | dELS_flank | ENSG00000154451 | 10,845 | ENSG00000238081 | 6,630 | 6,630 | ENSG00000238081 | distal | NA | NA | |
1 | 89,713,973 | A | G | true | missense_variant | 85 | rs12032393 | 0.9973 | Height | 0.14267 | 52.853 | missense_variant | missense_variant | ENSG00000171488 | 0 | ENSG00000171488 | 5,324 | 0 | ENSG00000171488 | missense_variant | ENSG00000171488 | 80,852 | ENSG00000171488 | 49,571 | 49,571 | ENSG00000171488 | missense_variant | NA | NA |
1 | 89,854,600 | T | C | false | distal | 41 | rs6697745 | 0.001367 | 0.35385 | 58.259 | intron_variant | dELS | ENSG00000171492 | 7,941 | ENSG00000271949 | 10,817 | 7,941 | ENSG00000171492 | dELS | ENSG00000171492 | 8,019 | ENSG00000272931 | 33,731 | 8,019 | ENSG00000171492 | distal | NA | NA | |
1 | 89,936,206 | G | A | false | 3_prime_UTR_variant | 134 | rs3765613 | 0.000095 | 0.035763 | 32.817 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000171492 | 0 | ENSG00000271949 | 2,955 | 0 | ENSG00000171492 | 3_prime_UTR_variant | ENSG00000162664 | 58,903 | ENSG00000272672 | 3,394 | 3,394 | ENSG00000272672 | 3_prime_UTR_variant | NA | NA | |
1 | 89,936,557 | T | C | false | 3_prime_UTR_variant | 134 | rs72716357 | 0.000084 | 0.063769 | 14.95 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000171492 | 0 | ENSG00000272672 | 3,043 | 0 | ENSG00000171492 | 3_prime_UTR_variant | ENSG00000162664 | 58,552 | ENSG00000272672 | 3,043 | 3,043 | ENSG00000272672 | 3_prime_UTR_variant | NA | NA | |
1 | 90,395,449 | T | C | false | non_coding_transcript_exon_variant | 123 | rs10754303 | 0.00013 | 0.20201 | 138.2 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143032 | 316,089 | ENSG00000287372 | 0 | 0 | ENSG00000287372 | non_coding_transcript_exon_variant | ENSG00000143032 | 321,852 | ENSG00000287372 | 5,531 | 5,531 | ENSG00000287372 | non_coding_transcript_exon_variant | NA | NA | |
1 | 90,777,645 | C | T | false | distal | 59 | rs698276 | 0.00004 | 0.074556 | 68.841 | intron_variant | dELS | ENSG00000143032 | 60,342 | ENSG00000233593 | 805 | 805 | ENSG00000233593 | dELS | ENSG00000143032 | 60,342 | ENSG00000233593 | 12,026 | 12,026 | ENSG00000233593 | distal | NA | NA | |
1 | 91,255,898 | A | C | false | distal | 160 | rs543835 | 0.000057 | 0.46807 | 137.48 | intergenic_variant | intergenic_variant | ENSG00000162669 | 4,867 | ENSG00000162669 | 4,867 | 4,867 | ENSG00000162669 | intergenic_variant | ENSG00000162669 | 91,550 | ENSG00000206817 | 5,726 | 5,726 | ENSG00000206817 | distal | NA | NA | |
1 | 91,375,646 | T | G | false | missense_variant | 84 | rs113908392 | 0.000045 | 0.014225 | 29.771 | missense_variant | missense_variant | ENSG00000162669 | 0 | ENSG00000162669 | 1,796 | 0 | ENSG00000162669 | missense_variant | ENSG00000162669 | 28,196 | ENSG00000162669 | 23,008 | 23,008 | ENSG00000162669 | missense_variant | NA | NA | |
1 | 91,601,983 | T | C | false | distal | 152 | rs4658242 | 0.000586 | 0.12478 | 51.565 | intergenic_variant | pELS | ENSG00000097046 | 76,218 | ENSG00000229067 | 1,661 | 1,661 | ENSG00000229067 | pELS | ENSG00000097046 | 100,844 | ENSG00000229067 | 1,811 | 1,811 | ENSG00000229067 | distal | NA | NA | |
1 | 91,606,668 | C | T | false | distal | 53 | rs1984633 | 0.000667 | 0.032588 | 57.544 | intergenic_variant | dELS | ENSG00000069702 | 73,674 | ENSG00000229067 | 6,346 | 6,346 | ENSG00000229067 | dELS | ENSG00000097046 | 105,529 | ENSG00000229067 | 6,496 | 6,496 | ENSG00000229067 | distal | NA | NA | |
1 | 91,867,308 | T | G | false | distal | 63 | rs1488691 | 0.007704 | 0.4645 | 151.94 | intron_variant | dELS | ENSG00000069702 | 465 | ENSG00000069702 | 3,028 | 465 | ENSG00000069702 | dELS | ENSG00000069702 | 5,714 | ENSG00000069702 | 5,261 | 5,261 | ENSG00000069702 | distal | NA | NA | |
1 | 91,937,950 | T | C | false | distal | 27 | rs12563149 | 0.000152 | 0.23024 | 97.84 | intergenic_variant | dELS | ENSG00000137948 | 11,392 | ENSG00000137948 | 11,447 | 11,392 | ENSG00000137948 | dELS | ENSG00000137948 | 11,392 | ENSG00000137948 | 11,447 | 11,392 | ENSG00000137948 | distal | NA | NA | |
1 | 91,980,841 | T | A | false | splicing | 188 | rs2303967 | 0.000149 | 0.20837 | 286.29 | intron_variant | CA-TF | ENSG00000137948 | 25 | ENSG00000137948 | 1,237 | 25 | ENSG00000137948 | exon_proximal | ENSG00000137948 | 13,257 | ENSG00000137948 | 3,759 | 3,759 | ENSG00000137948 | splicing | NA | splicing:b1 | |
1 | 91,994,056 | G | A | false | tss_proximal | 173 | rs74101067 | 0.000052 | 0.063244 | 292.12 | intron_variant | TF_flank | ENSG00000137948 | 26 | ENSG00000137948 | 14,452 | 26 | ENSG00000137948 | tss_proximal | ENSG00000137948 | 42 | ENSG00000137948 | 16,974 | 42 | ENSG00000137948 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 92,406,386 | A | G | false | distal | 160 | rs7518974 | 0.003006 | 0.43276 | 428.58 | intergenic_variant | intergenic_variant | ENSG00000122484 | 4,329 | ENSG00000242764 | 3,700 | 3,700 | ENSG00000242764 | intergenic_variant | ENSG00000162676 | 74,098 | ENSG00000242764 | 3,700 | 3,700 | ENSG00000242764 | distal | NA | NA | |
1 | 92,460,097 | G | C | true | distal | 47 | rs150649461 | 0.99962 | Mono | 0.015038 | 78.652 | intergenic_variant | dELS | ENSG00000162676 | 12,945 | ENSG00000162676 | 22,766 | 12,945 | ENSG00000162676 | dELS | ENSG00000162676 | 20,387 | ENSG00000162676 | 25,999 | 20,387 | ENSG00000162676 | distal | NA | NA |
1 | 92,460,734 | T | C | false | distal | 47 | rs186119224 | 0.000071 | 0.003661 | 220.38 | intergenic_variant | dELS | ENSG00000162676 | 12,308 | ENSG00000162676 | 22,129 | 12,308 | ENSG00000162676 | dELS | ENSG00000162676 | 19,750 | ENSG00000162676 | 25,362 | 19,750 | ENSG00000162676 | distal | NA | NA | |
1 | 92,515,679 | T | G | true | distal | 48 | rs184721335 | 0.99566 | Mono | 0.004336 | 24.164 | intron_variant | dELS | ENSG00000067208 | 1,708 | ENSG00000162676 | 28,753 | 1,708 | ENSG00000067208 | dELS | ENSG00000162676 | 28,753 | ENSG00000162676 | 28,753 | 28,753 | ENSG00000162676 | distal | NA | NA |
1 | 92,516,260 | T | C | false | distal | 48 | rs144409720 | 0.000381 | 0.006963 | 329.75 | intron_variant | dELS | ENSG00000067208 | 2,289 | ENSG00000162676 | 29,334 | 2,289 | ENSG00000067208 | dELS | ENSG00000162676 | 29,334 | ENSG00000162676 | 29,334 | 29,334 | ENSG00000162676 | distal | NA | NA | |
1 | 92,747,470 | G | T | false | distal | 164 | rs6674324 | 0.00093 | 0.10001 | 573.92 | intron_variant | pELS_flank | ENSG00000067208 | 10,842 | ENSG00000234202 | 1,704 | 1,704 | ENSG00000234202 | pELS_flank | ENSG00000067208 | 37,637 | ENSG00000234202 | 1,859 | 1,859 | ENSG00000234202 | distal | NA | NA | |
1 | 92,747,705 | C | T | false | distal | 164 | rs980938 | 0.00093 | 0.10001 | 573.89 | intron_variant | pELS_flank | ENSG00000067208 | 11,077 | ENSG00000234202 | 1,469 | 1,469 | ENSG00000234202 | pELS_flank | ENSG00000067208 | 37,402 | ENSG00000234202 | 1,624 | 1,624 | ENSG00000234202 | distal | NA | NA | |
1 | 92,748,123 | T | G | false | distal | 164 | rs2158446 | 0.000931 | 0.10001 | 573.87 | intron_variant | pELS_flank | ENSG00000067208 | 11,495 | ENSG00000234202 | 1,051 | 1,051 | ENSG00000234202 | pELS_flank | ENSG00000067208 | 36,984 | ENSG00000234202 | 1,206 | 1,206 | ENSG00000234202 | distal | NA | NA | |
1 | 92,837,557 | A | G | true | missense_variant | 86 | rs11540832 | 1 | Height | 0.008781 | 20.926 | missense_variant | missense_variant | ENSG00000122406 | 0 | ENSG00000122406 | 0 | 0 | ENSG00000122406 | missense_variant | ENSG00000122406 | 5,447 | ENSG00000206680 | 267 | 267 | ENSG00000206680 | missense_variant | NA | NA |
1 | 93,210,921 | A | C | false | missense_variant | 95 | rs76148185 | 0.000092 | 0.032791 | 39.609 | missense_variant | missense_variant | ENSG00000122483 | 0 | ENSG00000122483 | 0 | 0 | ENSG00000122483 | missense_variant | ENSG00000122483 | 5,365 | ENSG00000122483 | 10,743 | 5,365 | ENSG00000122483 | missense_variant | NA | NA | |
1 | 93,346,871 | T | A | false | splicing | 169 | rs372460042 | 0.000068 | 0.001334 | 8.3216 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000117505 | 5 | ENSG00000223745 | 845 | 5 | ENSG00000117505 | splice_donor_region_variant | ENSG00000117505 | 935 | ENSG00000223745 | 845 | 845 | ENSG00000223745 | splicing | NA | splicing:b1 | |
1 | 93,417,386 | G | A | false | distal | 158 | rs190513688 | 0.00012 | 0.002623 | 29.265 | intergenic_variant | intergenic_variant | ENSG00000137942 | 30,731 | ENSG00000207379 | 31,568 | 30,731 | ENSG00000137942 | intergenic_variant | ENSG00000137942 | 30,731 | ENSG00000207379 | 31,674 | 30,731 | ENSG00000137942 | distal | NA | NA | |
1 | 93,579,040 | C | T | false | distal | 63 | rs236316 | 0.000218 | 0.47147 | 114.95 | intron_variant | dELS | ENSG00000137936 | 2,910 | ENSG00000137936 | 3,260 | 2,910 | ENSG00000137936 | dELS | ENSG00000137936 | 6,041 | ENSG00000137936 | 6,060 | 6,041 | ENSG00000137936 | distal | NA | NA | |
1 | 93,877,008 | C | A | false | missense_variant | 105 | rs3747965 | 0.000356 | 0.33964 | 217.13 | missense_variant | missense_variant | ENSG00000067334 | 0 | ENSG00000067334 | 0 | 0 | ENSG00000067334 | missense_variant | ENSG00000067334 | 2,155 | ENSG00000067334 | 2,147 | 2,147 | ENSG00000067334 | missense_variant | NA | NA | |
1 | 94,004,764 | C | T | false | distal | 12 | rs114152972 | 0.00024 | 0.008123 | 5.9855 | intron_variant | dELS_flank | ENSG00000198691 | 676 | ENSG00000198691 | 610 | 610 | ENSG00000198691 | dELS_flank | ENSG00000023909 | 95,307 | ENSG00000198691 | 2,987 | 2,987 | ENSG00000198691 | distal | NA | NA | |
1 | 94,011,781 | C | A | false | tss_proximal | 166 | rs151326519 | 0.00011 | 0.008971 | 15.027 | intron_variant | dELS | ENSG00000198691 | 395 | ENSG00000198691 | 851 | 395 | ENSG00000198691 | tss_proximal | ENSG00000023909 | 102,324 | ENSG00000198691 | 851 | 851 | ENSG00000198691 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 94,023,253 | G | A | false | distal | 12 | rs41292679 | 0.000078 | 0.015594 | 9.0347 | intron_variant | dELS_flank | ENSG00000198691 | 132 | ENSG00000198691 | 132 | 132 | ENSG00000198691 | dELS_flank | ENSG00000198691 | 97,871 | ENSG00000198691 | 1,885 | 1,885 | ENSG00000198691 | distal | NA | NA | |
1 | 94,042,767 | G | A | false | missense_variant | 112 | rs61750120 | 0.000162 | 0.000295 | 2.5563 | missense_variant | missense_variant | ENSG00000198691 | 0 | ENSG00000198691 | 16,701 | 0 | ENSG00000198691 | missense_variant | ENSG00000198691 | 78,357 | ENSG00000198691 | 17,171 | 17,171 | ENSG00000198691 | missense_variant | NA | NA | |
1 | 94,043,413 | G | A | false | missense_variant | 112 | rs61751374 | 0.00019 | 0.001722 | 6.214 | missense_variant | missense_variant | ENSG00000198691 | 0 | ENSG00000198691 | 16,055 | 0 | ENSG00000198691 | missense_variant | ENSG00000198691 | 77,711 | ENSG00000198691 | 17,817 | 17,817 | ENSG00000198691 | missense_variant | NA | NA | |
1 | 94,218,199 | A | G | false | distal | 37 | rs3789690 | 0.000325 | 0.075951 | 111.08 | intron_variant | dELS | ENSG00000137962 | 2,058 | ENSG00000137962 | 2,058 | 2,058 | ENSG00000137962 | dELS | ENSG00000137962 | 19,384 | ENSG00000137962 | 22,258 | 19,384 | ENSG00000137962 | distal | NA | NA | |
1 | 94,218,581 | T | A | true | distal | 49 | rs80066701 | 0.99901 | AG,NAP | 0.091853 | 66.656 | intron_variant | dELS | ENSG00000137962 | 1,676 | ENSG00000137962 | 1,676 | 1,676 | ENSG00000137962 | dELS | ENSG00000137962 | 19,002 | ENSG00000137962 | 22,640 | 19,002 | ENSG00000137962 | distal | NA | NA |
1 | 94,529,935 | C | T | false | 3_prime_UTR_variant | 131 | rs841692 | 0.000614 | 0.49389 | 170.86 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000117525 | 0 | ENSG00000117525 | 3,061 | 0 | ENSG00000117525 | 3_prime_UTR_variant | ENSG00000117525 | 11,701 | ENSG00000117525 | 6,228 | 6,228 | ENSG00000117525 | 3_prime_UTR_variant | NA | NA | |
1 | 94,677,222 | G | A | false | distal | 70 | rs35912537 | 0.000034 | 0.042801 | 26.164 | intron_variant | dELS | ENSG00000117525 | 135,462 | ENSG00000224081 | 2,202 | 2,202 | ENSG00000224081 | dELS | ENSG00000117525 | 135,462 | ENSG00000224081 | 3,060 | 3,060 | ENSG00000224081 | distal | NA | NA | |
1 | 94,677,829 | A | C | false | distal | 70 | rs75864196 | 0.000061 | 0.027508 | 35.956 | intron_variant | dELS | ENSG00000117525 | 136,069 | ENSG00000224081 | 1,595 | 1,595 | ENSG00000224081 | dELS | ENSG00000117525 | 136,069 | ENSG00000224081 | 3,667 | 3,667 | ENSG00000224081 | distal | NA | NA | |
1 | 94,844,067 | A | G | false | distal | 36 | rs698965 | 0.000025 | 0.20927 | 77.69 | intron_variant | dELS | ENSG00000143036 | 1,210 | ENSG00000224081 | 472 | 472 | ENSG00000224081 | dELS | ENSG00000143036 | 23,263 | ENSG00000224081 | 11,353 | 11,353 | ENSG00000224081 | distal | NA | NA | |
1 | 94,846,549 | G | A | false | distal | 36 | rs698961 | 0.000035 | 0.20372 | 75.794 | intron_variant | dELS | ENSG00000143036 | 1,084 | ENSG00000143036 | 1,084 | 1,084 | ENSG00000143036 | dELS | ENSG00000143036 | 20,781 | ENSG00000224081 | 8,871 | 8,871 | ENSG00000224081 | distal | NA | NA | |
1 | 94,851,788 | T | C | false | distal | 38 | rs698959 | 0.000022 | 0.48493 | 56.319 | intron_variant | dELS | ENSG00000143036 | 5,546 | ENSG00000224081 | 3,455 | 3,455 | ENSG00000224081 | dELS | ENSG00000143036 | 15,542 | ENSG00000224081 | 3,632 | 3,632 | ENSG00000224081 | distal | NA | NA | |
1 | 94,851,908 | A | G | false | distal | 38 | rs696620 | 0.000023 | 0.48452 | 56.508 | intron_variant | dELS | ENSG00000143036 | 5,426 | ENSG00000224081 | 3,335 | 3,335 | ENSG00000224081 | dELS | ENSG00000143036 | 15,422 | ENSG00000224081 | 3,512 | 3,512 | ENSG00000224081 | distal | NA | NA | |
1 | 94,862,651 | G | T | false | distal | 19 | rs10493879 | 0.000152 | 0.11254 | 61.486 | intron_variant | dELS_flank | ENSG00000143036 | 2,091 | ENSG00000143036 | 2,091 | 2,091 | ENSG00000143036 | dELS_flank | ENSG00000143036 | 4,679 | ENSG00000224081 | 7,224 | 4,679 | ENSG00000143036 | distal | NA | NA | |
1 | 95,069,890 | A | C | false | distal | 67 | rs6683112 | 0.000076 | 0.43139 | 200.17 | intron_variant | dELS | ENSG00000172339 | 2,872 | ENSG00000230427 | 2,344 | 2,344 | ENSG00000230427 | dELS | ENSG00000172339 | 3,060 | ENSG00000172339 | 2,983 | 2,983 | ENSG00000172339 | distal | NA | NA | |
1 | 95,072,786 | C | A | false | missense_variant | 104 | rs139521179 | 0.000035 | 0.003973 | 9.0293 | missense_variant | missense_variant | ENSG00000172339 | 0 | ENSG00000172339 | 0 | 0 | ENSG00000172339 | missense_variant | ENSG00000172339 | 164 | ENSG00000172339 | 87 | 87 | ENSG00000172339 | missense_variant | NA | NA | |
1 | 95,234,422 | A | G | false | tss_proximal | 136 | rs147737137 | 0.000064 | 0.014409 | 20.84 | intron_variant | pELS | ENSG00000122481 | 106 | ENSG00000122481 | 106 | 106 | ENSG00000122481 | tss_proximal | ENSG00000122481 | 210 | ENSG00000122481 | 153 | 153 | ENSG00000122481 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 96,714,756 | A | G | false | distal | 4 | rs6679882 | 0.001019 | 0.33629 | 395.48 | intergenic_variant | dELS_flank | ENSG00000117569 | 7,020 | ENSG00000117569 | 6,908 | 6,908 | ENSG00000117569 | dELS_flank | ENSG00000117569 | 7,020 | ENSG00000117569 | 6,908 | 6,908 | ENSG00000117569 | distal | NA | NA | |
1 | 96,714,876 | T | G | false | distal | 4 | rs6682629 | 0.001032 | 0.33632 | 395.47 | intergenic_variant | dELS_flank | ENSG00000117569 | 6,900 | ENSG00000117569 | 6,788 | 6,788 | ENSG00000117569 | dELS_flank | ENSG00000117569 | 6,900 | ENSG00000117569 | 6,788 | 6,788 | ENSG00000117569 | distal | NA | NA | |
1 | 97,967,756 | T | C | false | non_coding_transcript_exon_variant | 116 | rs80075254 | 0.000131 | 0.06893 | 193.77 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000188641 | 46,706 | ENSG00000259946 | 0 | 0 | ENSG00000259946 | non_coding_transcript_exon_variant | ENSG00000188641 | 46,706 | ENSG00000259946 | 1,057 | 1,057 | ENSG00000259946 | non_coding_transcript_exon_variant | NA | NA | |
1 | 98,629,688 | C | G | false | distal | 158 | rs548142473 | 0.000043 | 0.002736 | 14.515 | intergenic_variant | intergenic_variant | ENSG00000162627 | 32,012 | ENSG00000280040 | 30,699 | 30,699 | ENSG00000280040 | intergenic_variant | ENSG00000162627 | 32,012 | ENSG00000280040 | 31,370 | 31,370 | ENSG00000280040 | distal | NA | NA | |
1 | 98,629,750 | C | A | false | distal | 158 | rs575487324 | 0.000119 | 0.004851 | 87.754 | intergenic_variant | intergenic_variant | ENSG00000162627 | 31,950 | ENSG00000280040 | 30,637 | 30,637 | ENSG00000280040 | intergenic_variant | ENSG00000162627 | 31,950 | ENSG00000280040 | 31,308 | 31,308 | ENSG00000280040 | distal | NA | NA | |
1 | 98,671,960 | A | G | false | distal | 42 | rs72724094 | 0.000024 | 0.18767 | 146.11 | intron_variant | dELS | ENSG00000162627 | 9,577 | ENSG00000162627 | 5,340 | 5,340 | ENSG00000162627 | dELS | ENSG00000162627 | 9,736 | ENSG00000162627 | 10,097 | 9,736 | ENSG00000162627 | distal | NA | NA | |
1 | 99,005,171 | G | C | false | tss_proximal | 142 | rs1869936 | 0.000147 | 0.27996 | 153.51 | intron_variant | PLS_flank | ENSG00000117598 | 138 | ENSG00000232825 | 525 | 138 | ENSG00000117598 | tss_proximal | ENSG00000117598 | 138 | ENSG00000232825 | 627 | 138 | ENSG00000117598 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 99,271,490 | T | C | false | distal | 29 | rs723196 | 0.000139 | 0.27674 | 102.22 | intron_variant | dELS | ENSG00000117600 | 6,818 | ENSG00000232825 | 26,695 | 6,818 | ENSG00000117600 | dELS | ENSG00000117600 | 6,997 | ENSG00000117600 | 27,373 | 6,997 | ENSG00000117600 | distal | NA | NA | |
1 | 99,467,782 | T | C | false | distal | 69 | rs12144940 | 0.000104 | 0.26873 | 41.533 | intergenic_variant | dELS | ENSG00000117600 | 158,197 | ENSG00000233983 | 3,005 | 3,005 | ENSG00000233983 | dELS | ENSG00000099260 | 178,330 | ENSG00000233983 | 3,403 | 3,403 | ENSG00000233983 | distal | NA | NA | |
1 | 99,738,092 | C | T | false | synonymous_variant | 187 | rs7537296 | 0.000018 | 0.31854 | 323.57 | synonymous_variant | synonymous_variant | ENSG00000156869 | 0 | ENSG00000156869 | 9,502 | 0 | ENSG00000156869 | synonymous_variant | ENSG00000156869 | 27,700 | ENSG00000156869 | 22,432 | 22,432 | ENSG00000156869 | synonymous_variant | NA | NA | |
1 | 99,738,137 | G | A | false | synonymous_variant | 187 | rs7514021 | 0.000019 | 0.31853 | 323.95 | synonymous_variant | synonymous_variant | ENSG00000156869 | 0 | ENSG00000156869 | 9,457 | 0 | ENSG00000156869 | synonymous_variant | ENSG00000156869 | 27,655 | ENSG00000156869 | 22,477 | 22,477 | ENSG00000156869 | synonymous_variant | NA | NA | |
1 | 99,752,632 | C | T | true | distal | 15 | rs72723768 | 0.98669 | Height | 0.14405 | 132.79 | intron_variant | dELS_flank | ENSG00000156869 | 3,630 | ENSG00000156869 | 3,630 | 3,630 | ENSG00000156869 | dELS_flank | ENSG00000156869 | 13,160 | ENSG00000156869 | 13,998 | 13,160 | ENSG00000156869 | distal | NA | NA |
1 | 99,869,899 | A | T | false | distal | 8 | rs653389 | 0.000023 | 0.29841 | 208.5 | intron_variant | dELS_flank | ENSG00000162688 | 500 | ENSG00000162688 | 500 | 500 | ENSG00000162688 | dELS_flank | ENSG00000162688 | 17,228 | ENSG00000162688 | 4,570 | 4,570 | ENSG00000162688 | distal | NA | NA | |
1 | 100,027,147 | A | G | false | missense_variant | 73 | rs138097451 | 0.000106 | 0.011181 | 326.46 | missense_variant | missense_variant | ENSG00000117620 | 0 | ENSG00000117620 | 0 | 0 | ENSG00000117620 | missense_variant | ENSG00000156875 | 10,947 | ENSG00000288826 | 10,894 | 10,894 | ENSG00000288826 | missense_variant | NA | NA | |
1 | 100,160,564 | G | A | false | missense_variant | 90 | rs201143796 | 0.000095 | 0.000035 | 2.3441 | missense_variant | missense_variant | ENSG00000122477 | 0 | ENSG00000122435 | 15,996 | 0 | ENSG00000122477 | missense_variant | ENSG00000122477 | 17,650 | ENSG00000122435 | 17,656 | 17,650 | ENSG00000122477 | missense_variant | NA | NA | |
1 | 100,353,172 | T | G | true | tss_proximal | 142 | rs17420882 | 0.99564 | eGFR,sCr | 0.27882 | 147.72 | intron_variant | pELS | ENSG00000079335 | 168 | ENSG00000079335 | 168 | 168 | ENSG00000079335 | tss_proximal | ENSG00000079335 | 222 | ENSG00000079335 | 662 | 222 | ENSG00000079335 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
1 | 100,366,274 | A | T | false | distal | 67 | rs660945 | 0.007794 | 0.4308 | 218.12 | intron_variant | dELS | ENSG00000079335 | 3,048 | ENSG00000079335 | 3,048 | 3,048 | ENSG00000079335 | dELS | ENSG00000079335 | 3,155 | ENSG00000079335 | 3,112 | 3,112 | ENSG00000079335 | distal | NA | NA | |
1 | 100,626,534 | G | T | false | distal | 152 | rs72977364 | 0.000039 | 0.13872 | 145.28 | downstream_gene_variant | pELS | ENSG00000181656 | 84,512 | ENSG00000230402 | 514 | 514 | ENSG00000230402 | pELS | ENSG00000181656 | 88,394 | ENSG00000285525 | 1,695 | 1,695 | ENSG00000285525 | distal | NA | NA | |
1 | 100,626,645 | T | A | false | distal | 152 | rs12728281 | 0.000134 | 0.098785 | 124.15 | downstream_gene_variant | pELS | ENSG00000181656 | 84,623 | ENSG00000230402 | 403 | 403 | ENSG00000230402 | pELS | ENSG00000181656 | 88,505 | ENSG00000285525 | 1,584 | 1,584 | ENSG00000285525 | distal | NA | NA | |
1 | 101,011,156 | G | C | false | distal | 24 | rs11166536 | 0.000012 | 0.093742 | 61.722 | intron_variant | dELS_flank | ENSG00000117543 | 2,553 | ENSG00000117543 | 434 | 434 | ENSG00000117543 | dELS_flank | ENSG00000117543 | 14,606 | ENSG00000117543 | 10,563 | 10,563 | ENSG00000117543 | distal | NA | NA | |
1 | 101,149,174 | C | A | false | distal | 152 | rs72987279 | 0.002824 | 0.11543 | 240.3 | intergenic_variant | pELS | ENSG00000170989 | 87,690 | ENSG00000289355 | 1,385 | 1,385 | ENSG00000289355 | pELS | ENSG00000170989 | 87,690 | ENSG00000289355 | 1,385 | 1,385 | ENSG00000289355 | distal | NA | NA | |
1 | 101,193,787 | T | C | true | distal | 50 | rs77666400 | 1 | GGT | 0.26372 | 93.243 | intergenic_variant | dELS | ENSG00000170989 | 43,077 | ENSG00000271578 | 2,792 | 2,792 | ENSG00000271578 | dELS | ENSG00000170989 | 43,077 | ENSG00000271578 | 3,266 | 3,266 | ENSG00000271578 | distal | NA | NA |
1 | 101,193,874 | T | C | false | distal | 50 | rs12401816 | 0.000138 | 0.24768 | 127.79 | intergenic_variant | dELS | ENSG00000170989 | 42,990 | ENSG00000271578 | 2,879 | 2,879 | ENSG00000271578 | dELS | ENSG00000170989 | 42,990 | ENSG00000271578 | 3,353 | 3,353 | ENSG00000271578 | distal | NA | NA | |
1 | 101,236,803 | T | C | true | tss_proximal | 172 | rs146490475 | 0.976765 | Lym | 0.017338 | 14.002 | upstream_gene_variant | PLS | ENSG00000170989 | 61 | ENSG00000170989 | 95 | 61 | ENSG00000170989 | tss_proximal | ENSG00000170989 | 61 | ENSG00000170989 | 95 | 61 | ENSG00000170989 | tss_proximal | tss_prox:b0 | tss_prox:b0 |
1 | 101,236,990 | G | C | false | splicing | 184 | rs4987248 | 0.000016 | 0.048135 | 68.331 | splice_region_variant | splice_region_variant | ENSG00000170989 | 0 | ENSG00000170989 | 0 | 0 | ENSG00000170989 | splice_region_variant | ENSG00000170989 | 28 | ENSG00000170989 | 90 | 28 | ENSG00000170989 | splicing | NA | splicing:b0 | |
1 | 101,239,021 | C | G | true | missense_variant | 87 | rs41287280 | 1 | Lym | 0.021132 | 17.847 | missense_variant | missense_variant | ENSG00000170989 | 0 | ENSG00000170989 | 1,921 | 0 | ENSG00000170989 | missense_variant | ENSG00000170989 | 685 | ENSG00000170989 | 2,121 | 685 | ENSG00000170989 | missense_variant | NA | NA |
1 | 101,250,090 | G | A | false | distal | 9 | rs12044675 | 0.000025 | 0.061225 | 65.384 | intergenic_variant | dELS_flank | ENSG00000170989 | 8,571 | ENSG00000228399 | 6,183 | 6,183 | ENSG00000228399 | dELS_flank | ENSG00000170989 | 11,754 | ENSG00000228399 | 6,183 | 6,183 | ENSG00000228399 | distal | NA | NA | |
1 | 101,267,901 | C | T | true | distal | 16 | rs77372977 | 0.96885 | Lym,WBC | 0.001611 | 6.7887 | intergenic_variant | dELS_flank | ENSG00000170989 | 26,382 | ENSG00000173810 | 2,973 | 2,973 | ENSG00000173810 | dELS_flank | ENSG00000170989 | 29,565 | ENSG00000173810 | 3,461 | 3,461 | ENSG00000173810 | distal | NA | NA |
1 | 101,331,929 | T | C | false | distal | 53 | rs7537518 | 0.000255 | 0.034881 | 78.955 | intron_variant | dELS | ENSG00000170989 | 90,410 | ENSG00000231671 | 8,053 | 8,053 | ENSG00000231671 | dELS | ENSG00000170989 | 93,593 | ENSG00000231671 | 8,091 | 8,091 | ENSG00000231671 | distal | NA | NA | |
1 | 101,331,950 | T | A | false | distal | 53 | rs7537524 | 0.000248 | 0.034747 | 78.785 | intron_variant | dELS | ENSG00000170989 | 90,431 | ENSG00000231671 | 8,074 | 8,074 | ENSG00000231671 | dELS | ENSG00000170989 | 93,614 | ENSG00000231671 | 8,112 | 8,112 | ENSG00000231671 | distal | NA | NA | |
1 | 101,332,054 | T | G | false | distal | 53 | rs7537616 | 0.000185 | 0.035275 | 80.606 | intron_variant | dELS | ENSG00000170989 | 90,535 | ENSG00000231671 | 8,178 | 8,178 | ENSG00000231671 | dELS | ENSG00000170989 | 93,718 | ENSG00000231671 | 8,216 | 8,216 | ENSG00000231671 | distal | NA | NA | |
1 | 101,333,146 | A | C | false | distal | 53 | rs76855147 | 0.000037 | 0.027725 | 32.409 | intron_variant | dELS | ENSG00000170989 | 91,627 | ENSG00000231671 | 9,270 | 9,270 | ENSG00000231671 | dELS | ENSG00000170989 | 94,810 | ENSG00000231671 | 9,308 | 9,308 | ENSG00000231671 | distal | NA | NA | |
1 | 101,845,150 | A | C | false | distal | 145 | rs4908195 | 0.000023 | 0.41663 | 35.346 | intron_variant | intron_variant | ENSG00000118733 | 1,694 | ENSG00000118733 | 1,694 | 1,694 | ENSG00000118733 | intron_variant | ENSG00000118733 | 1,822 | ENSG00000118733 | 1,822 | 1,822 | ENSG00000118733 | distal | NA | NA | |
1 | 103,003,211 | A | T | false | splicing | 168 | rs12136577 | 0.000054 | 0.14074 | 323.83 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000060718 | 3 | ENSG00000060718 | 3 | 3 | ENSG00000060718 | splice_donor_region_variant | ENSG00000060718 | 79,647 | ENSG00000060718 | 28,001 | 28,001 | ENSG00000060718 | splicing | NA | splicing:b0 | |
1 | 106,876,130 | A | T | false | distal | 21 | rs12124811 | 0.000025 | 0.27769 | 154.8 | intergenic_variant | dELS_flank | ENSG00000198890 | 180,543 | ENSG00000237460 | 10,813 | 10,813 | ENSG00000237460 | dELS_flank | ENSG00000198890 | 180,543 | ENSG00000237460 | 57,868 | 57,868 | ENSG00000237460 | distal | NA | NA | |
1 | 106,876,135 | A | T | false | distal | 21 | rs12124812 | 0.000025 | 0.27769 | 154.79 | intergenic_variant | dELS_flank | ENSG00000198890 | 180,538 | ENSG00000237460 | 10,818 | 10,818 | ENSG00000237460 | dELS_flank | ENSG00000198890 | 180,538 | ENSG00000237460 | 57,873 | 57,873 | ENSG00000237460 | distal | NA | NA | |
1 | 107,025,810 | T | C | false | distal | 158 | rs180912266 | 0.000607 | 0.004366 | 9.7695 | intergenic_variant | intergenic_variant | ENSG00000198890 | 30,863 | ENSG00000198890 | 31,091 | 30,863 | ENSG00000198890 | intergenic_variant | ENSG00000198890 | 30,863 | ENSG00000198890 | 31,091 | 30,863 | ENSG00000198890 | distal | NA | NA | |
1 | 107,684,508 | T | A | false | distal | 39 | rs4131724 | 0.000107 | 0.034914 | 31.556 | intron_variant | dELS | ENSG00000134215 | 974 | ENSG00000134215 | 974 | 974 | ENSG00000134215 | dELS | ENSG00000134215 | 3,995 | ENSG00000134215 | 1,443 | 1,443 | ENSG00000134215 | distal | NA | NA | |
1 | 107,772,128 | T | C | false | distal | 170 | rs35852784 | 0.00371 | 0.14169 | 85.735 | intron_variant | CA-CTCF_flank | ENSG00000134215 | 606 | ENSG00000134215 | 606 | 606 | ENSG00000134215 | CA-CTCF_flank | ENSG00000134215 | 22,619 | ENSG00000134215 | 13,495 | 13,495 | ENSG00000134215 | distal | NA | NA | |
1 | 107,772,190 | T | C | false | distal | 170 | rs17483780 | 0.003731 | 0.14168 | 85.735 | intron_variant | CA-CTCF_flank | ENSG00000134215 | 544 | ENSG00000134215 | 544 | 544 | ENSG00000134215 | CA-CTCF_flank | ENSG00000134215 | 22,681 | ENSG00000134215 | 13,433 | 13,433 | ENSG00000134215 | distal | NA | NA | |
1 | 108,765,568 | T | C | false | distal | 64 | rs1767016 | 0.004203 | 0.21357 | 208.58 | intron_variant | dELS | ENSG00000116266 | 5,482 | ENSG00000228076 | 1,272 | 1,272 | ENSG00000228076 | dELS | ENSG00000116266 | 18,893 | ENSG00000228076 | 2,015 | 2,015 | ENSG00000228076 | distal | NA | NA | |
1 | 108,856,622 | G | A | false | tss_proximal | 142 | rs7550668 | 0.000505 | 0.27716 | 175.07 | intron_variant | intron_variant | ENSG00000162641 | 306 | ENSG00000162641 | 306 | 306 | ENSG00000162641 | tss_proximal | ENSG00000162641 | 461 | ENSG00000162641 | 453 | 453 | ENSG00000162641 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 108,897,593 | G | A | false | missense_variant | 83 | rs41279678 | 0.000708 | 0.094535 | 209 | missense_variant | missense_variant | ENSG00000121957 | 0 | ENSG00000121957 | 0 | 0 | ENSG00000121957 | missense_variant | ENSG00000121957 | 56 | ENSG00000121957 | 5,576 | 56 | ENSG00000121957 | missense_variant | NA | NA | |
1 | 108,904,128 | G | A | false | missense_variant | 81 | rs61754640 | 0.000285 | 0.035033 | 32.175 | missense_variant | missense_variant | ENSG00000121957 | 0 | ENSG00000121957 | 0 | 0 | ENSG00000121957 | missense_variant | ENSG00000121957 | 2,223 | ENSG00000121957 | 839 | 839 | ENSG00000121957 | missense_variant | NA | NA | |
1 | 108,937,356 | G | T | false | missense_variant | 88 | rs168107 | 0.000415 | 0.25962 | 177.96 | missense_variant | missense_variant | ENSG00000121940 | 0 | ENSG00000121940 | 0 | 0 | ENSG00000121940 | missense_variant | ENSG00000121940 | 2,625 | ENSG00000121940 | 1,734 | 1,734 | ENSG00000121940 | missense_variant | NA | NA | |
1 | 108,951,034 | T | C | false | 5_prime_UTR_variant | 125 | rs114291219 | 0.000078 | 0.009615 | 13.353 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000121940 | 585 | ENSG00000121940 | 0 | 0 | ENSG00000121940 | 5_prime_UTR_variant | ENSG00000121940 | 585 | ENSG00000121940 | 891 | 585 | ENSG00000121940 | 5_prime_UTR_variant | NA | NA | |
1 | 108,951,213 | T | A | false | 5_prime_UTR_variant | 125 | rs114862885 | 0.000106 | 0.012142 | 24.967 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000121940 | 764 | ENSG00000121940 | 0 | 0 | ENSG00000121940 | 5_prime_UTR_variant | ENSG00000121940 | 764 | ENSG00000121940 | 712 | 712 | ENSG00000121940 | 5_prime_UTR_variant | NA | NA | |
1 | 109,006,353 | A | G | false | distal | 147 | rs60993967 | 0.000094 | 0.43674 | 114.53 | intron_variant | intron_variant | ENSG00000085433 | 1,634 | ENSG00000244716 | 13,516 | 1,634 | ENSG00000085433 | intron_variant | ENSG00000085433 | 35,193 | ENSG00000244716 | 14,070 | 14,070 | ENSG00000244716 | distal | NA | NA | |
1 | 109,014,941 | C | T | false | distal | 147 | rs17838317 | 0.000089 | 0.43711 | 114.57 | intron_variant | intron_variant | ENSG00000085433 | 1,015 | ENSG00000228665 | 15,125 | 1,015 | ENSG00000085433 | intron_variant | ENSG00000085433 | 26,605 | ENSG00000228665 | 15,125 | 15,125 | ENSG00000228665 | distal | NA | NA |
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