Datasets:
marin-dna
/
evals_complex_traits

Dataset card Data Studio Files
xet
 Community
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
19
12,502,473
A
G
false
tss_proximal
1,065
rs2161482
0.000496
0.22946
266.6
intron_variant
pELS_flank
ENSG00000242852
11,270
ENSG00000236483
201
201
ENSG00000236483
tss_proximal
ENSG00000242852
11,359
ENSG00000236483
201
201
ENSG00000236483
tss_proximal
tss_prox:b2
tss_prox:b2
19
12,502,512
G
T
false
tss_proximal
1,065
rs2162861
0.000497
0.22945
266.6
intron_variant
pELS_flank
ENSG00000242852
11,231
ENSG00000236483
162
162
ENSG00000236483
tss_proximal
ENSG00000242852
11,320
ENSG00000236483
162
162
ENSG00000236483
tss_proximal
tss_prox:b2
tss_prox:b2
19
12,617,957
G
A
false
distal
1,066
rs112223354
0.000822
0.29617
74.532
intron_variant
dELS
ENSG00000173875
5,742
ENSG00000188033
5,303
5,303
ENSG00000188033
dELS
ENSG00000173875
7,002
ENSG00000173875
6,998
6,998
ENSG00000173875
distal
NA
NA
19
12,657,035
C
A
false
missense_variant
1,015
rs34544747
0.000227
0.014579
204.74
missense_variant
missense_variant
ENSG00000104774
0
ENSG00000104774
0
0
ENSG00000104774
missense_variant
ENSG00000104774
9,698
ENSG00000104774
199
199
ENSG00000104774
missense_variant
NA
NA
19
12,661,351
G
A
false
missense_variant
1,033
rs1054487
0.000515
0.39283
101.53
missense_variant
missense_variant
ENSG00000104774
0
ENSG00000104774
0
0
ENSG00000104774
missense_variant
ENSG00000104774
5,382
ENSG00000104774
2,066
2,066
ENSG00000104774
missense_variant
NA
NA
19
12,675,635
G
A
false
missense_variant
1,002
rs35092999
0.000052
0.0075
36.027
missense_variant
missense_variant
ENSG00000123154
0
ENSG00000123154
0
0
ENSG00000123154
missense_variant
ENSG00000095059
436
ENSG00000095059
1,282
436
ENSG00000095059
missense_variant
NA
NA
19
12,680,878
G
A
false
tss_proximal
991
rs181889920
0.00006
0.003233
29.713
intron_variant
PLS_flank
ENSG00000095059
154
ENSG00000095059
154
154
ENSG00000095059
tss_proximal
ENSG00000095059
327
ENSG00000095059
282
282
ENSG00000095059
tss_proximal
tss_prox:b1
tss_prox:b1
19
12,689,783
T
C
false
missense_variant
1,020
rs73921601
0.0002
0.013259
220.19
missense_variant
missense_variant
ENSG00000132004
0
ENSG00000132004
0
0
ENSG00000132004
missense_variant
ENSG00000283980
1,733
ENSG00000267791
860
860
ENSG00000267791
missense_variant
NA
NA
19
12,696,373
C
T
false
missense_variant
1,020
rs6511833
0.000461
0.013733
223.72
missense_variant
missense_variant
ENSG00000132004
0
ENSG00000132004
0
0
ENSG00000132004
missense_variant
ENSG00000132004
207
ENSG00000132004
245
207
ENSG00000132004
missense_variant
NA
NA
19
12,703,250
C
G
false
tss_proximal
991
rs141755114
0.000065
0.003471
8.3893
intron_variant
dELS
ENSG00000105576
177
ENSG00000105576
177
177
ENSG00000105576
tss_proximal
ENSG00000105576
404
ENSG00000105576
199
199
ENSG00000105576
tss_proximal
tss_prox:b1
tss_prox:b1
19
12,763,569
C
T
false
missense_variant
1,015
rs189241336
0.000094
0.011343
20.904
missense_variant
missense_variant
ENSG00000095066
0
ENSG00000095066
0
0
ENSG00000095066
missense_variant
ENSG00000039987
7,709
ENSG00000095066
152
152
ENSG00000095066
missense_variant
NA
NA
19
12,780,274
G
C
false
distal
1,050
rs530598813
0.000611
0.002592
18.861
intron_variant
dELS_flank
ENSG00000095066
1,816
ENSG00000095066
1,827
1,816
ENSG00000095066
dELS_flank
ENSG00000095066
1,816
ENSG00000095066
1,827
1,816
ENSG00000095066
distal
NA
NA
19
12,804,228
G
C
false
missense_variant
1,032
rs28603316
0.000144
0.032897
161.71
missense_variant
missense_variant
ENSG00000284491
0
ENSG00000284491
0
0
ENSG00000284491
missense_variant
ENSG00000284491
2,158
ENSG00000284491
2,164
2,158
ENSG00000284491
missense_variant
NA
NA
19
12,816,394
T
C
false
distal
1,123
rs78240252
0.000137
0.032872
161.7
intron_variant
TF
ENSG00000104889
2,753
ENSG00000284491
2,812
2,753
ENSG00000104889
TF
ENSG00000104889
9,716
ENSG00000267424
9,316
9,316
ENSG00000267424
distal
NA
NA
19
12,816,561
A
G
false
distal
1,123
rs78140679
0.000137
0.032873
161.7
intron_variant
TF
ENSG00000104889
2,920
ENSG00000284491
2,979
2,920
ENSG00000104889
TF
ENSG00000104889
9,883
ENSG00000267424
9,149
9,149
ENSG00000267424
distal
NA
NA
19
12,857,369
A
G
false
distal
1,120
rs6511844
0.00013
0.22861
124.45
intron_variant
CA-TF_flank
ENSG00000105613
992
ENSG00000105613
992
992
ENSG00000105613
CA-TF_flank
ENSG00000105613
9,549
ENSG00000276181
5,108
5,108
ENSG00000276181
distal
NA
NA
19
12,870,439
C
G
true
distal
1,120
rs11672387
0.99991
MCV
0.2183
97.104
intron_variant
CA-TF_flank
ENSG00000105613
384
ENSG00000105613
384
384
ENSG00000105613
CA-TF_flank
ENSG00000105612
11,009
ENSG00000105613
1,837
1,837
ENSG00000105613
distal
NA
NA
19
12,899,706
A
G
true
3_prime_UTR_variant
1,106
rs8012
0.98401
MCV
0.45181
74.81
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000105607
0
ENSG00000105607
0
0
ENSG00000105607
3_prime_UTR_variant
ENSG00000161860
777
ENSG00000105607
134
134
ENSG00000105607
3_prime_UTR_variant
NA
NA
19
12,948,812
C
T
false
missense_variant
1,020
rs4987202
0.006665
0.012526
26.585
missense_variant
missense_variant
ENSG00000179262
0
ENSG00000179262
0
0
ENSG00000179262
missense_variant
ENSG00000179262
271
ENSG00000179262
122
122
ENSG00000179262
missense_variant
NA
NA
19
12,961,782
G
A
true
distal
1,121
rs12609178
0.97156
MCH,RBC
0.10703
54.835
intergenic_variant
CA-H3K4me3_flank
ENSG00000179284
3,376
ENSG00000179262
8,141
3,376
ENSG00000179284
CA-H3K4me3_flank
ENSG00000179284
3,376
ENSG00000179262
9,417
3,376
ENSG00000179284
distal
NA
NA
19
12,999,640
C
T
false
distal
1,089
rs188051741
0.001153
0.002992
15.146
intron_variant
dELS
ENSG00000008441
3,775
ENSG00000008441
12,566
3,775
ENSG00000008441
dELS
ENSG00000008441
4,031
ENSG00000008441
12,566
4,031
ENSG00000008441
distal
NA
NA
19
13,000,109
C
T
false
distal
1,089
rs774314180
0.000289
0.001551
11.127
intron_variant
dELS
ENSG00000008441
4,244
ENSG00000008441
12,097
4,244
ENSG00000008441
dELS
ENSG00000008441
4,500
ENSG00000008441
12,097
4,500
ENSG00000008441
distal
NA
NA
19
13,063,036
T
C
false
distal
1,072
rs75460821
0.002154
0.10931
60.512
intron_variant
dELS
ENSG00000008441
10,010
ENSG00000267610
6,755
6,755
ENSG00000267610
dELS
ENSG00000008441
37,859
ENSG00000008441
6,966
6,966
ENSG00000008441
distal
NA
NA
19
13,081,246
G
A
false
tss_proximal
1,095
rs140734078
0.000058
0.007945
11.359
intron_variant
pELS_flank
ENSG00000008441
433
ENSG00000008441
433
433
ENSG00000008441
tss_proximal
ENSG00000104903
21,611
ENSG00000279044
719
719
ENSG00000279044
tss_proximal
tss_prox:b2
tss_prox:b1
19
13,109,889
C
G
true
tss_proximal
1,094
rs35601737
0.989405
Urea
0.30816
13.515
intron_variant
dELS_flank
ENSG00000104907
25
ENSG00000104907
25
25
ENSG00000104907
tss_proximal
ENSG00000104903
6,727
ENSG00000104907
156
156
ENSG00000104907
tss_proximal
tss_prox:b2
tss_prox:b0
19
13,122,685
G
A
false
distal
1,078
rs36083263
0.00007
0.19657
50.186
intron_variant
dELS
ENSG00000160877
3,959
ENSG00000104907
5,925
3,959
ENSG00000160877
dELS
ENSG00000160877
4,284
ENSG00000104907
5,925
4,284
ENSG00000160877
distal
NA
NA
19
13,122,780
G
A
false
distal
1,078
rs8109318
0.000072
0.19652
50.173
intron_variant
dELS
ENSG00000160877
4,054
ENSG00000104907
6,020
4,054
ENSG00000160877
dELS
ENSG00000160877
4,379
ENSG00000104907
6,020
4,379
ENSG00000160877
distal
NA
NA
19
13,181,022
T
C
false
distal
1,086
rs117208278
0.000188
0.028368
12.557
intergenic_variant
dELS
ENSG00000141837
25,419
ENSG00000213253
22,233
22,233
ENSG00000213253
dELS
ENSG00000160888
29,046
ENSG00000213253
22,233
22,233
ENSG00000213253
distal
NA
NA
19
13,249,419
A
C
false
distal
1,124
rs722419
0.000065
0.47403
43.968
intron_variant
intron_variant
ENSG00000141837
3,571
ENSG00000141837
3,097
3,097
ENSG00000141837
intron_variant
ENSG00000141837
3,591
ENSG00000141837
3,575
3,575
ENSG00000141837
distal
NA
NA
19
13,260,172
T
C
false
non_coding_transcript_exon_variant
980
rs62108599
0.000031
0.14855
47.542
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000141837
470
ENSG00000141837
0
0
ENSG00000141837
non_coding_transcript_exon_variant
ENSG00000141837
564
ENSG00000141837
61
61
ENSG00000141837
non_coding_transcript_exon_variant
NA
NA
19
13,260,189
A
G
false
non_coding_transcript_exon_variant
980
rs62108600
0.000031
0.14853
47.536
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000141837
487
ENSG00000141837
0
0
ENSG00000141837
non_coding_transcript_exon_variant
ENSG00000141837
581
ENSG00000141837
44
44
ENSG00000141837
non_coding_transcript_exon_variant
NA
NA
19
13,610,084
G
T
false
distal
1,083
rs62109303
0.000499
0.1064
39.285
intron_variant
dELS
ENSG00000141837
10,027
ENSG00000141837
10,027
10,027
ENSG00000141837
dELS
ENSG00000141837
10,137
ENSG00000141837
22,940
10,137
ENSG00000141837
distal
NA
NA
19
13,766,948
T
C
false
distal
1,052
rs6511888
0.000479
0.41915
42.394
intron_variant
dELS_flank
ENSG00000037757
818
ENSG00000037757
818
818
ENSG00000037757
dELS_flank
ENSG00000037757
2,415
ENSG00000037757
2,366
2,366
ENSG00000037757
distal
NA
NA
19
13,801,088
A
G
false
distal
1,077
rs12611231
0.000097
0.18899
68.661
intron_variant
dELS
ENSG00000132003
1,166
ENSG00000267582
4,154
1,166
ENSG00000132003
dELS
ENSG00000132003
5,627
ENSG00000267582
4,154
4,154
ENSG00000267582
distal
NA
NA
19
13,803,166
A
G
false
distal
1,078
rs113439714
0.000096
0.18711
68.264
intron_variant
dELS
ENSG00000132003
1,625
ENSG00000267582
6,232
1,625
ENSG00000132003
dELS
ENSG00000132003
7,705
ENSG00000267582
6,232
6,232
ENSG00000267582
distal
NA
NA
19
13,890,703
C
A
false
tss_proximal
1,096
rs34679323
0.000213
0.22386
110.31
intron_variant
dELS_flank
ENSG00000132016
240
ENSG00000132016
761
240
ENSG00000132016
tss_proximal
ENSG00000132016
2,322
ENSG00000132016
761
761
ENSG00000132016
tss_proximal
tss_prox:b2
tss_prox:b1
19
13,913,456
C
T
false
missense_variant
1,015
rs61740117
0.000025
0.013698
11.489
missense_variant
missense_variant
ENSG00000132024
0
ENSG00000132024
0
0
ENSG00000132024
missense_variant
ENSG00000132024
6,370
ENSG00000132024
202
202
ENSG00000132024
missense_variant
NA
NA
19
13,932,007
C
T
false
missense_variant
1,018
rs140715588
0.000041
0.007425
6.9551
missense_variant
missense_variant
ENSG00000132000
0
ENSG00000132024
1,127
0
ENSG00000132000
missense_variant
ENSG00000132000
936
ENSG00000132000
5,877
936
ENSG00000132000
missense_variant
NA
NA
19
14,040,924
T
C
false
distal
1,128
rs73519645
0.003583
0.20839
74.07
intron_variant
intron_variant
ENSG00000104998
1,013
ENSG00000267670
9,366
1,013
ENSG00000104998
intron_variant
ENSG00000104998
9,161
ENSG00000267670
9,366
9,161
ENSG00000104998
distal
NA
NA
19
14,042,481
T
C
true
missense_variant
1,011
rs35026308
0.9993
Lym
0.17625
21.067
missense_variant
missense_variant
ENSG00000104998
0
ENSG00000267670
10,923
0
ENSG00000104998
missense_variant
ENSG00000104998
10,718
ENSG00000267670
10,923
10,718
ENSG00000104998
missense_variant
NA
NA
19
14,078,343
T
C
false
distal
1,053
rs36075762
0.000713
0.024686
20.367
intergenic_variant
dELS_flank
ENSG00000141854
3,280
ENSG00000141854
3,280
3,280
ENSG00000141854
dELS_flank
ENSG00000141854
4,760
ENSG00000284081
4,981
4,760
ENSG00000141854
distal
NA
NA
19
14,143,372
C
T
false
distal
1,043
rs60119120
0.000026
0.005822
11.008
intron_variant
dELS_flank
ENSG00000072071
4,370
ENSG00000267169
6,148
4,370
ENSG00000072071
dELS_flank
ENSG00000105011
6,782
ENSG00000267169
6,183
6,183
ENSG00000267169
distal
NA
NA
19
14,143,382
C
T
false
distal
1,043
rs117762359
0.000095
0.011488
7.0633
intron_variant
dELS_flank
ENSG00000072071
4,360
ENSG00000267169
6,158
4,360
ENSG00000072071
dELS_flank
ENSG00000105011
6,792
ENSG00000267169
6,193
6,193
ENSG00000267169
distal
NA
NA
19
14,143,517
A
G
false
distal
1,043
rs148873696
0.000036
0.012255
31.555
intron_variant
dELS_flank
ENSG00000072071
4,225
ENSG00000267169
6,293
4,225
ENSG00000072071
dELS_flank
ENSG00000105011
6,927
ENSG00000267169
6,328
6,328
ENSG00000267169
distal
NA
NA
19
14,371,257
T
C
false
distal
999
rs10415803
0.000132
0.23878
39.415
intergenic_variant
pELS_flank
ENSG00000123146
9,898
ENSG00000266913
1,060
1,060
ENSG00000266913
pELS_flank
ENSG00000123146
9,898
ENSG00000266913
1,060
1,060
ENSG00000266913
distal
NA
NA
19
14,374,449
C
G
false
distal
1,071
rs16979607
0.000028
0.12398
34.408
intergenic_variant
dELS
ENSG00000123146
6,706
ENSG00000266913
4,252
4,252
ENSG00000266913
dELS
ENSG00000123146
6,706
ENSG00000266913
4,252
4,252
ENSG00000266913
distal
NA
NA
19
14,412,696
C
T
false
missense_variant
1,020
rs117106249
0.000025
0.01286
17.014
missense_variant
missense_variant
ENSG00000123136
0
ENSG00000123136
0
0
ENSG00000123136
missense_variant
ENSG00000123136
485
ENSG00000123136
523
485
ENSG00000123136
missense_variant
NA
NA
19
14,418,270
C
T
true
tss_proximal
989
rs117111916
0.99874
MCV
0.055713
22.025
intron_variant
pELS
ENSG00000123136
658
ENSG00000123136
999
658
ENSG00000123136
tss_proximal
ENSG00000123136
791
ENSG00000123136
1,052
791
ENSG00000123136
tss_proximal
tss_prox:b1
tss_prox:b1
19
14,431,479
T
G
false
distal
997
rs8104877
0.000901
0.30854
25.413
intergenic_variant
pELS_flank
ENSG00000123143
1,573
ENSG00000123143
1,843
1,573
ENSG00000123143
pELS_flank
ENSG00000123143
1,573
ENSG00000123143
1,843
1,573
ENSG00000123143
distal
NA
NA
19
14,467,895
G
A
false
missense_variant
1,007
rs35416389
0.000072
0.047781
19.512
missense_variant
missense_variant
ENSG00000123143
0
ENSG00000123143
0
0
ENSG00000123143
missense_variant
ENSG00000123143
2,886
ENSG00000123143
272
272
ENSG00000123143
missense_variant
NA
NA
19
14,471,296
G
C
false
missense_variant
1,002
rs569484384
0.00003
0.00825
7.9459
missense_variant
missense_variant
ENSG00000123143
0
ENSG00000123143
284
0
ENSG00000123143
missense_variant
ENSG00000123143
513
ENSG00000123143
1,120
513
ENSG00000123143
missense_variant
NA
NA
19
14,471,656
G
A
false
missense_variant
1,000
rs10846
0.00048
0.095665
29.464
missense_variant
missense_variant
ENSG00000123143
0
ENSG00000123143
0
0
ENSG00000123143
missense_variant
ENSG00000123143
873
ENSG00000123143
1,480
873
ENSG00000123143
missense_variant
NA
NA
19
14,472,252
G
C
false
distal
1,067
rs2241364
0.000208
0.49367
34.048
downstream_gene_variant
dELS
ENSG00000160951
213
ENSG00000123143
384
213
ENSG00000160951
dELS
ENSG00000123143
1,469
ENSG00000123143
2,076
1,469
ENSG00000123143
distal
NA
NA
19
14,474,265
G
A
false
missense_variant
1,013
rs200186321
0.000033
0.000903
3.1416
missense_variant
missense_variant
ENSG00000160951
0
ENSG00000123143
2,397
0
ENSG00000160951
missense_variant
ENSG00000160951
1,088
ENSG00000123143
4,089
1,088
ENSG00000160951
missense_variant
NA
NA
19
14,479,467
G
C
false
missense_variant
1,025
rs45458894
0.000041
0.076881
40.107
missense_variant
missense_variant
ENSG00000123159
0
ENSG00000123159
0
0
ENSG00000123159
missense_variant
ENSG00000123159
389
ENSG00000123159
1,128
389
ENSG00000123159
missense_variant
NA
NA
19
14,495,415
C
T
false
tss_proximal
986
rs35076591
0.002527
0.047949
35.51
intron_variant
pELS_flank
ENSG00000123159
621
ENSG00000123159
621
621
ENSG00000123159
tss_proximal
ENSG00000123159
711
ENSG00000123159
636
636
ENSG00000123159
tss_proximal
tss_prox:b1
tss_prox:b1
19
14,497,145
C
T
false
tss_proximal
989
rs117132863
0.000071
0.054438
25.408
upstream_gene_variant
pELS_flank
ENSG00000123159
995
ENSG00000123159
1,092
995
ENSG00000123159
tss_proximal
ENSG00000123159
995
ENSG00000123159
1,092
995
ENSG00000123159
tss_proximal
tss_prox:b1
tss_prox:b1
19
14,517,447
C
A
false
5_prime_UTR_variant
1,100
rs185408769
0.000214
0.084446
40.907
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132002
0
ENSG00000099797
62
0
ENSG00000132002
5_prime_UTR_variant
ENSG00000132002
121
ENSG00000099797
361
121
ENSG00000132002
5_prime_UTR_variant
NA
NA
19
14,517,449
A
T
false
5_prime_UTR_variant
1,100
rs190861836
0.000136
0.081523
40.185
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132002
0
ENSG00000099797
64
0
ENSG00000132002
5_prime_UTR_variant
ENSG00000132002
119
ENSG00000099797
363
119
ENSG00000132002
5_prime_UTR_variant
NA
NA
19
14,530,225
A
G
false
non_coding_transcript_exon_variant
980
rs35258260
0.000545
0.14792
58.201
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000132002
421
ENSG00000099797
0
0
ENSG00000099797
non_coding_transcript_exon_variant
ENSG00000132002
421
ENSG00000099797
527
421
ENSG00000132002
non_coding_transcript_exon_variant
NA
NA
19
14,545,000
T
C
false
tss_proximal
1,064
rs73002853
0.00396
0.39456
80.619
intron_variant
dELS
ENSG00000132002
5,207
ENSG00000099797
113
113
ENSG00000099797
tss_proximal
ENSG00000132002
5,342
ENSG00000099797
723
723
ENSG00000099797
tss_proximal
tss_prox:b2
tss_prox:b2
19
14,545,053
T
C
false
tss_proximal
1,064
rs7252966
0.002936
0.39414
56.563
intron_variant
dELS
ENSG00000132002
5,154
ENSG00000099797
60
60
ENSG00000099797
tss_proximal
ENSG00000132002
5,289
ENSG00000099797
670
670
ENSG00000099797
tss_proximal
tss_prox:b2
tss_prox:b2
19
14,545,319
G
A
false
tss_proximal
1,064
rs10406927
0.001913
0.39371
75.32
intron_variant
dELS_flank
ENSG00000132002
4,888
ENSG00000099797
138
138
ENSG00000099797
tss_proximal
ENSG00000132002
5,023
ENSG00000099797
404
404
ENSG00000099797
tss_proximal
tss_prox:b2
tss_prox:b2
19
14,550,464
C
T
false
5_prime_UTR_variant
1,101
rs117121081
0.000049
0.015894
9.5657
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132002
0
ENSG00000132002
0
0
ENSG00000132002
5_prime_UTR_variant
ENSG00000132002
120
ENSG00000099797
4,704
120
ENSG00000132002
5_prime_UTR_variant
NA
NA
19
14,560,141
G
A
false
5_prime_UTR_variant
1,100
rs35394596
0.000056
0.082692
51.494
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132002
0
ENSG00000132002
0
0
ENSG00000132002
5_prime_UTR_variant
ENSG00000132002
120
ENSG00000132002
249
120
ENSG00000132002
5_prime_UTR_variant
NA
NA
19
14,562,510
G
A
false
missense_variant
1,001
rs113855270
0.000142
0.010645
12.545
missense_variant
missense_variant
ENSG00000099797
0
ENSG00000099797
14
0
ENSG00000099797
missense_variant
ENSG00000099797
153
ENSG00000099797
457
153
ENSG00000099797
missense_variant
NA
NA
19
14,688,454
T
C
false
distal
998
rs55909164
0.000146
0.31267
127.83
intron_variant
pELS_flank
ENSG00000131355
1,454
ENSG00000160961
1,346
1,346
ENSG00000160961
pELS_flank
ENSG00000131355
1,572
ENSG00000160961
1,346
1,346
ENSG00000160961
distal
NA
NA
19
14,705,106
A
C
false
missense_variant
1,016
rs75269766
0.000063
0.042788
56.382
missense_variant
missense_variant
ENSG00000160961
0
ENSG00000160961
0
0
ENSG00000160961
missense_variant
ENSG00000160961
15,031
ENSG00000160961
2,887
2,887
ENSG00000160961
missense_variant
NA
NA
19
14,783,588
G
A
false
distal
1,080
rs116899839
0.000321
0.015808
22.76
intergenic_variant
dELS
ENSG00000127507
5,027
ENSG00000127507
5,046
5,027
ENSG00000127507
dELS
ENSG00000127507
5,027
ENSG00000127507
5,046
5,027
ENSG00000127507
distal
NA
NA
19
14,784,112
A
G
false
distal
1,078
rs11881045
0.000184
0.19976
83.377
intergenic_variant
dELS
ENSG00000127530
5,147
ENSG00000127530
5,147
5,147
ENSG00000127530
dELS
ENSG00000127507
5,551
ENSG00000127507
5,570
5,551
ENSG00000127507
distal
NA
NA
19
14,797,856
A
G
false
3_prime_UTR_variant
1,113
rs76206761
0.000393
0.016532
42.874
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000127530
0
ENSG00000127530
5,263
0
ENSG00000127530
3_prime_UTR_variant
ENSG00000127530
2,354
ENSG00000256210
5,537
2,354
ENSG00000127530
3_prime_UTR_variant
NA
NA
19
14,839,867
A
G
false
distal
1,077
rs16979965
0.000069
0.19463
69.876
downstream_gene_variant
dELS
ENSG00000127515
598
ENSG00000127530
4,490
598
ENSG00000127515
dELS
ENSG00000127530
4,581
ENSG00000127530
4,490
4,490
ENSG00000127530
distal
NA
NA
19
14,864,082
C
T
false
non_coding_transcript_exon_variant
982
rs61741191
0.000159
0.045018
72.001
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000185385
14,120
ENSG00000172148
0
0
ENSG00000172148
non_coding_transcript_exon_variant
ENSG00000127515
15,159
ENSG00000172148
632
632
ENSG00000172148
non_coding_transcript_exon_variant
NA
NA
19
14,880,627
T
G
false
synonymous_variant
1,060
rs34590588
0.00005
0.0269
72.733
synonymous_variant
synonymous_variant
ENSG00000185385
0
ENSG00000269678
6,211
0
ENSG00000185385
synonymous_variant
ENSG00000185385
4,133
ENSG00000269678
6,487
4,133
ENSG00000185385
synonymous_variant
NA
NA
19
15,066,397
T
A
false
distal
1,133
rs28759799
0.00032
0.2307
97.713
intergenic_variant
intergenic_variant
ENSG00000105141
8,103
ENSG00000105141
10,118
8,103
ENSG00000105141
intergenic_variant
ENSG00000094661
15,813
ENSG00000105141
11,494
11,494
ENSG00000105141
distal
NA
NA
19
15,066,457
A
G
false
distal
1,133
rs28771780
0.000302
0.23091
97.658
intergenic_variant
intergenic_variant
ENSG00000105141
8,163
ENSG00000105141
10,178
8,163
ENSG00000105141
intergenic_variant
ENSG00000094661
15,753
ENSG00000105141
11,554
11,554
ENSG00000105141
distal
NA
NA
19
15,066,588
C
A
false
distal
1,133
rs55781701
0.000313
0.2307
97.709
intergenic_variant
intergenic_variant
ENSG00000105141
8,294
ENSG00000105141
10,309
8,294
ENSG00000105141
intergenic_variant
ENSG00000094661
15,622
ENSG00000105141
11,685
11,685
ENSG00000105141
distal
NA
NA
19
15,099,965
C
T
false
distal
1,055
rs10408949
0.000279
0.31043
51.519
intergenic_variant
dELS_flank
ENSG00000094661
6,994
ENSG00000105135
15,018
6,994
ENSG00000094661
dELS_flank
ENSG00000105137
7,435
ENSG00000105135
16,714
7,435
ENSG00000105137
distal
NA
NA
19
15,105,533
T
A
false
distal
996
rs12459446
0.000165
0.081131
26.988
intergenic_variant
pELS_flank
ENSG00000105137
1,867
ENSG00000105135
9,450
1,867
ENSG00000105137
pELS_flank
ENSG00000105137
1,867
ENSG00000105135
11,146
1,867
ENSG00000105137
distal
NA
NA
19
15,114,747
G
A
false
3_prime_UTR_variant
1,107
rs11550668
0.00097
0.041944
27.356
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000105137
0
ENSG00000105135
236
0
ENSG00000105137
3_prime_UTR_variant
ENSG00000105137
4,165
ENSG00000105135
1,932
1,932
ENSG00000105135
3_prime_UTR_variant
NA
NA
19
15,141,211
G
A
false
non_coding_transcript_exon_variant
982
rs75712402
0.000118
0.038626
31.557
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000105135
15,424
ENSG00000267961
0
0
ENSG00000267961
non_coding_transcript_exon_variant
ENSG00000105135
15,424
ENSG00000267961
850
850
ENSG00000267961
non_coding_transcript_exon_variant
NA
NA
19
15,146,400
G
T
false
distal
1,116
rs13346421
0.001206
0.13848
87.187
intergenic_variant
pELS
ENSG00000074181
12,637
ENSG00000252661
1,081
1,081
ENSG00000252661
pELS
ENSG00000074181
19,566
ENSG00000252661
1,184
1,184
ENSG00000252661
distal
NA
NA
19
15,201,184
T
G
false
tss_proximal
992
rs73926728
0.000111
0.00942
69.1
upstream_gene_variant
pELS
ENSG00000074181
188
ENSG00000269635
19,830
188
ENSG00000074181
tss_proximal
ENSG00000074181
188
ENSG00000269635
21,112
188
ENSG00000074181
tss_proximal
tss_prox:b1
tss_prox:b1
19
15,201,478
G
A
false
tss_proximal
992
rs146431197
0.000326
0.003962
35.367
upstream_gene_variant
PLS_flank
ENSG00000074181
482
ENSG00000269635
19,536
482
ENSG00000074181
tss_proximal
ENSG00000074181
482
ENSG00000269635
20,818
482
ENSG00000074181
tss_proximal
tss_prox:b1
tss_prox:b1
19
15,292,887
G
A
false
distal
1,073
rs117599719
0.000051
0.005166
6.8295
intron_variant
dELS
ENSG00000141867
12,435
ENSG00000141867
19,753
12,435
ENSG00000141867
dELS
ENSG00000141867
12,435
ENSG00000141867
19,905
12,435
ENSG00000141867
distal
NA
NA
19
15,293,053
T
C
false
distal
1,073
rs113007989
0.000441
0.002832
8.2452
intron_variant
dELS
ENSG00000141867
12,601
ENSG00000141867
19,919
12,601
ENSG00000141867
dELS
ENSG00000141867
12,601
ENSG00000141867
20,071
12,601
ENSG00000141867
distal
NA
NA
19
15,293,850
G
C
false
distal
1,073
rs28704770
0.000179
0.005131
81.398
intron_variant
dELS
ENSG00000141867
13,398
ENSG00000141867
20,716
13,398
ENSG00000141867
dELS
ENSG00000141867
13,398
ENSG00000141867
20,868
13,398
ENSG00000141867
distal
NA
NA
19
15,330,259
A
T
false
distal
1,079
rs7257178
0.000039
0.29539
62.097
intron_variant
dELS
ENSG00000141867
1,576
ENSG00000141867
2,030
1,576
ENSG00000141867
dELS
ENSG00000141867
1,646
ENSG00000141867
2,183
1,646
ENSG00000141867
distal
NA
NA
19
15,470,442
A
G
false
distal
1,066
rs7248655
0.000037
0.28218
54.614
intron_variant
dELS
ENSG00000161031
512
ENSG00000105122
5,927
512
ENSG00000161031
dELS
ENSG00000105122
5,897
ENSG00000105122
5,927
5,897
ENSG00000105122
distal
NA
NA
19
15,501,575
T
C
false
distal
1,055
rs57669263
0.00004
0.30748
52.995
intergenic_variant
dELS_flank
ENSG00000161031
2,618
ENSG00000269765
13,766
2,618
ENSG00000161031
dELS_flank
ENSG00000161031
2,618
ENSG00000269765
15,260
2,618
ENSG00000161031
distal
NA
NA
19
15,608,047
T
G
false
distal
1,056
rs140670956
0.000253
0.22892
230.72
intergenic_variant
dELS_flank
ENSG00000186526
7,170
ENSG00000267135
3,575
3,575
ENSG00000267135
dELS_flank
ENSG00000186526
7,170
ENSG00000225067
3,609
3,609
ENSG00000225067
distal
NA
NA
19
15,616,313
T
C
false
distal
1,122
rs62106282
0.001476
0.09881
149.8
intron_variant
TF
ENSG00000186526
498
ENSG00000186526
498
498
ENSG00000186526
TF
ENSG00000186526
1,094
ENSG00000186526
1,091
1,091
ENSG00000186526
distal
NA
NA
19
15,641,871
G
T
false
tss_proximal
987
rs4646506
0.000842
0.15192
209.64
intron_variant
pELS
ENSG00000186529
257
ENSG00000186529
257
257
ENSG00000186529
tss_proximal
ENSG00000186529
561
ENSG00000186529
576
561
ENSG00000186529
tss_proximal
tss_prox:b1
tss_prox:b1
19
15,673,509
G
T
false
5_prime_UTR_variant
1,098
rs56124328
0.000294
0.06843
164.72
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000186204
0
ENSG00000186204
19
0
ENSG00000186204
5_prime_UTR_variant
ENSG00000186204
30
ENSG00000186204
418
30
ENSG00000186204
5_prime_UTR_variant
NA
NA
19
15,775,998
G
A
false
distal
1,127
rs56294401
0.000044
0.1267
232
intron_variant
intron_variant
ENSG00000172519
11,662
ENSG00000267594
399
399
ENSG00000267594
intron_variant
ENSG00000172519
11,662
ENSG00000267594
3,910
3,910
ENSG00000267594
distal
NA
NA
19
15,789,849
A
G
false
distal
1,121
rs7249737
0.00013
0.10362
212.81
intron_variant
CA-H3K4me3_flank
ENSG00000172519
2,132
ENSG00000267594
9,939
2,132
ENSG00000172519
CA-H3K4me3_flank
ENSG00000172519
2,187
ENSG00000267594
9,939
2,187
ENSG00000172519
distal
NA
NA
19
15,794,317
G
A
false
missense_variant
1,004
rs150017317
0.000032
0.046261
150.68
missense_variant
missense_variant
ENSG00000172519
0
ENSG00000267594
14,407
0
ENSG00000172519
missense_variant
ENSG00000172519
365
ENSG00000267594
14,407
365
ENSG00000172519
missense_variant
NA
NA
19
15,866,494
G
A
false
distal
999
rs4808397
0.000218
0.22134
174.24
intergenic_variant
pELS_flank
ENSG00000186115
11,528
ENSG00000267453
1,569
1,569
ENSG00000267453
pELS_flank
ENSG00000186115
19,530
ENSG00000267453
1,569
1,569
ENSG00000267453
distal
NA
NA
19
15,886,018
G
C
false
missense_variant
1,030
rs145174239
0.00004
0.008682
32.257
missense_variant
missense_variant
ENSG00000186115
0
ENSG00000186115
0
0
ENSG00000186115
missense_variant
ENSG00000186115
6
ENSG00000186115
482
6
ENSG00000186115
missense_variant
NA
NA
19
15,922,103
T
C
false
missense_variant
1,028
rs150589633
0.000377
0.000032
2.3729
missense_variant
missense_variant
ENSG00000171903
0
ENSG00000267056
10,278
0
ENSG00000171903
missense_variant
ENSG00000171903
6,007
ENSG00000267056
10,278
6,007
ENSG00000171903
missense_variant
NA
NA