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
1
32,231,027
A
C
false
splicing
184
rs72666795
0.001047
0.06386
209.25
splice_region_variant
splice_region_variant
ENSG00000084623
0
ENSG00000084623
0
0
ENSG00000084623
splice_region_variant
ENSG00000084623
8,593
ENSG00000084623
3,412
3,412
ENSG00000084623
splicing
NA
splicing:b0
1
32,246,849
G
A
false
tss_proximal
141
rs72668506
0.000036
0.038438
152.8
upstream_gene_variant
PLS_flank
ENSG00000183615
372
ENSG00000182866
4,394
372
ENSG00000183615
tss_proximal
ENSG00000183615
372
ENSG00000182866
4,394
372
ENSG00000183615
tss_proximal
tss_prox:b1
tss_prox:b1
1
32,246,914
C
T
false
tss_proximal
141
rs72668508
0.000036
0.038468
152.78
upstream_gene_variant
PLS
ENSG00000183615
307
ENSG00000182866
4,329
307
ENSG00000183615
tss_proximal
ENSG00000183615
307
ENSG00000182866
4,329
307
ENSG00000183615
tss_proximal
tss_prox:b1
tss_prox:b1
1
32,291,945
C
T
false
tss_proximal
136
rs36212114
0.000054
0.014363
18.303
upstream_gene_variant
PLS
ENSG00000116478
137
ENSG00000116478
189
137
ENSG00000116478
tss_proximal
ENSG00000116478
137
ENSG00000116478
189
137
ENSG00000116478
tss_proximal
tss_prox:b1
tss_prox:b1
1
32,376,718
T
C
false
missense_variant
99
rs34885668
0.00009
0.034498
73.291
missense_variant
missense_variant
ENSG00000160058
0
ENSG00000160058
0
0
ENSG00000160058
missense_variant
ENSG00000162526
14,178
ENSG00000160058
1,935
1,935
ENSG00000160058
missense_variant
NA
NA
1
32,718,806
G
C
false
distal
44
rs190897473
0.00002
0.008217
26.864
intron_variant
dELS
ENSG00000162520
15,209
ENSG00000224409
837
837
ENSG00000224409
dELS
ENSG00000162520
15,209
ENSG00000224409
6,430
6,430
ENSG00000224409
distal
NA
NA
1
32,770,050
A
G
false
missense_variant
107
rs12730560
0.000303
0.12587
82.154
missense_variant
missense_variant
ENSG00000162522
0
ENSG00000162522
1,103
0
ENSG00000162522
missense_variant
ENSG00000162522
4,382
ENSG00000134684
10,660
4,382
ENSG00000162522
missense_variant
NA
NA
1
32,770,188
C
T
false
missense_variant
95
rs41306613
0.000051
0.032387
37.924
missense_variant
missense_variant
ENSG00000162522
0
ENSG00000162522
1,241
0
ENSG00000162522
missense_variant
ENSG00000162522
4,520
ENSG00000134684
10,522
4,520
ENSG00000162522
missense_variant
NA
NA
1
32,795,048
G
A
false
distal
32
rs2786593
0.000253
0.097882
89.865
intron_variant
dELS
ENSG00000134684
2,714
ENSG00000134684
2,111
2,111
ENSG00000134684
dELS
ENSG00000116497
21,718
ENSG00000134684
3,165
3,165
ENSG00000134684
distal
NA
NA
1
32,861,080
G
T
false
distal
43
rs16835198
0.000164
0.38694
84.066
intergenic_variant
dELS
ENSG00000160097
1,187
ENSG00000160097
1,187
1,187
ENSG00000160097
dELS
ENSG00000160097
9,694
ENSG00000160097
1,935
1,935
ENSG00000160097
distal
NA
NA
1
32,949,062
T
C
false
distal
37
rs67811792
0.002634
0.081615
96.321
intron_variant
dELS
ENSG00000116514
506
ENSG00000287691
2,364
506
ENSG00000116514
dELS
ENSG00000116514
15,622
ENSG00000287691
23,607
15,622
ENSG00000116514
distal
NA
NA
1
33,383,948
C
T
false
distal
25
rs11585856
0.005962
0.2395
258.06
intron_variant
dELS_flank
ENSG00000134686
8,354
ENSG00000134686
8,354
8,354
ENSG00000134686
dELS_flank
ENSG00000134686
8,354
ENSG00000134686
8,816
8,354
ENSG00000134686
distal
NA
NA
1
33,430,546
C
T
false
5_prime_UTR_variant
126
rs74651966
0.000163
0.083884
91.133
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000134686
0
ENSG00000234512
35,702
0
ENSG00000134686
5_prime_UTR_variant
ENSG00000134686
99
ENSG00000234512
35,702
99
ENSG00000134686
5_prime_UTR_variant
NA
NA
1
33,448,732
T
G
true
distal
156
rs11577667
0.90427
Urea
0.32908
132.75
intergenic_variant
intergenic_variant
ENSG00000134686
17,636
ENSG00000234512
17,516
17,516
ENSG00000234512
intergenic_variant
ENSG00000134686
17,636
ENSG00000234512
17,516
17,516
ENSG00000234512
distal
NA
NA
1
33,613,220
T
C
false
distal
170
rs17357341
0.000235
0.14891
59.797
intron_variant
CA-CTCF_flank
ENSG00000121904
1,283
ENSG00000121904
1,283
1,283
ENSG00000121904
CA-CTCF_flank
ENSG00000121904
40,629
ENSG00000121904
10,742
10,742
ENSG00000121904
distal
NA
NA
1
33,725,350
C
G
false
missense_variant
112
rs61735686
0.00003
0.007748
13.25
missense_variant
missense_variant
ENSG00000121904
0
ENSG00000121904
15,845
0
ENSG00000121904
missense_variant
ENSG00000176256
135,124
ENSG00000121904
15,845
15,845
ENSG00000121904
missense_variant
NA
NA
1
33,862,701
C
T
false
tss_proximal
165
rs1884983
0.00004
0.20181
74.871
intron_variant
pELS_flank
ENSG00000176256
163
ENSG00000176256
163
163
ENSG00000176256
tss_proximal
ENSG00000176256
1,377
ENSG00000176256
519
519
ENSG00000176256
tss_proximal
tss_prox:b2
tss_prox:b1
1
34,751,775
T
G
true
distal
41
rs585268
1
Height
0.36177
33.024
intron_variant
dELS
ENSG00000189280
3,271
ENSG00000255811
9,650
3,271
ENSG00000189280
dELS
ENSG00000189280
3,271
ENSG00000255811
36,321
3,271
ENSG00000189280
distal
NA
NA
1
34,981,229
G
A
false
distal
40
rs11263872
0.000102
0.025386
225.92
downstream_gene_variant
dELS
ENSG00000243749
150
ENSG00000271741
303
150
ENSG00000243749
dELS
ENSG00000284773
4,083
ENSG00000241014
2,522
2,522
ENSG00000241014
distal
NA
NA
1
34,988,872
C
G
false
missense_variant
76
rs61741445
0.000078
0.000459
28.85
missense_variant
missense_variant
ENSG00000163867
0
ENSG00000163867
0
0
ENSG00000163867
missense_variant
ENSG00000243749
3,524
ENSG00000241014
10,165
3,524
ENSG00000243749
missense_variant
NA
NA
1
35,186,727
G
A
false
distal
7
rs189981217
0.000157
0.002396
17.13
intron_variant
dELS_flank
ENSG00000116560
273
ENSG00000116560
273
273
ENSG00000116560
dELS_flank
ENSG00000116560
6,417
ENSG00000116560
1,314
1,314
ENSG00000116560
distal
NA
NA
1
36,072,681
G
A
false
distal
186
rs274745
0.00004
0.0804
254.6
downstream_gene_variant
downstream_gene_variant
ENSG00000126070
180
ENSG00000232862
7,384
180
ENSG00000126070
downstream_gene_variant
ENSG00000092850
11,412
ENSG00000232862
8,535
8,535
ENSG00000232862
distal
NA
NA
1
36,085,057
C
T
false
missense_variant
80
rs12043423
0.00004
0.000518
94.773
missense_variant
missense_variant
ENSG00000092850
0
ENSG00000092850
0
0
ENSG00000092850
missense_variant
ENSG00000092850
962
ENSG00000092850
718
718
ENSG00000092850
missense_variant
NA
NA
1
36,088,235
A
C
false
3_prime_UTR_variant
133
rs12131875
0.000042
0.095745
23.799
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000092850
0
ENSG00000092850
0
0
ENSG00000092850
3_prime_UTR_variant
ENSG00000116863
656
ENSG00000092850
3,896
656
ENSG00000116863
3_prime_UTR_variant
NA
NA
1
36,157,129
T
C
false
tss_proximal
174
rs272834
0.000212
0.17084
65.41
intron_variant
pELS
ENSG00000116871
85
ENSG00000116871
665
85
ENSG00000116871
tss_proximal
ENSG00000116871
85
ENSG00000116871
953
85
ENSG00000116871
tss_proximal
tss_prox:b0
tss_prox:b0
1
36,177,087
G
A
false
tss_proximal
144
rs554008
0.000179
0.28677
62.041
intron_variant
dELS_flank
ENSG00000116871
244
ENSG00000116871
244
244
ENSG00000116871
tss_proximal
ENSG00000116871
369
ENSG00000116871
280
280
ENSG00000116871
tss_proximal
tss_prox:b1
tss_prox:b1
1
36,189,240
G
A
false
distal
20
rs144738022
0.003203
0.043357
41.537
intergenic_variant
dELS_flank
ENSG00000116871
8,390
ENSG00000264592
2,674
2,674
ENSG00000264592
dELS_flank
ENSG00000116871
12,522
ENSG00000264592
2,674
2,674
ENSG00000264592
distal
NA
NA
1
36,222,530
C
T
false
distal
150
rs150098101
0.000039
0.037544
26.759
intergenic_variant
pELS
ENSG00000054118
1,901
ENSG00000231849
19,367
1,901
ENSG00000054118
pELS
ENSG00000054118
1,901
ENSG00000231849
19,625
1,901
ENSG00000054118
distal
NA
NA
1
36,222,628
G
A
false
distal
150
rs116718163
0.000068
0.031448
19.769
intergenic_variant
pELS
ENSG00000054118
1,803
ENSG00000231849
19,269
1,803
ENSG00000054118
pELS
ENSG00000054118
1,803
ENSG00000231849
19,527
1,803
ENSG00000054118
distal
NA
NA
1
36,367,495
G
C
true
distal
7
rs566921175
0.91173
Neutro
0.001254
3.9405
intron_variant
dELS_flank
ENSG00000196182
352
ENSG00000196182
356
352
ENSG00000196182
dELS_flank
ENSG00000196182
6,154
ENSG00000196182
1,422
1,422
ENSG00000196182
distal
NA
NA
1
36,397,328
T
G
false
tss_proximal
139
rs4653186
0.000461
0.3205
75.238
intron_variant
pELS
ENSG00000181817
438
ENSG00000181817
289
289
ENSG00000181817
tss_proximal
ENSG00000181817
579
ENSG00000181817
549
549
ENSG00000181817
tss_proximal
tss_prox:b1
tss_prox:b1
1
36,412,423
A
C
false
distal
33
rs883805
0.000081
0.21944
135.81
intergenic_variant
dELS
ENSG00000116885
3,403
ENSG00000116885
5,482
3,403
ENSG00000116885
dELS
ENSG00000116885
9,757
ENSG00000201448
6,154
6,154
ENSG00000201448
distal
NA
NA
1
36,412,465
G
A
false
distal
33
rs883806
0.000077
0.21951
135.76
intergenic_variant
dELS
ENSG00000116885
3,361
ENSG00000116885
5,440
3,361
ENSG00000116885
dELS
ENSG00000116885
9,715
ENSG00000201448
6,112
6,112
ENSG00000201448
distal
NA
NA
1
36,442,561
A
C
false
distal
151
rs946681
0.000184
0.097692
181.27
intron_variant
pELS
ENSG00000116885
1,442
ENSG00000116885
3,560
1,442
ENSG00000116885
pELS
ENSG00000116885
1,585
ENSG00000116885
3,560
1,585
ENSG00000116885
distal
NA
NA
1
36,466,446
C
T
true
missense_variant
79
rs146617729
0.95679
Mono
0.008181
21.579
missense_variant
missense_variant
ENSG00000119535
0
ENSG00000119535
0
0
ENSG00000119535
missense_variant
ENSG00000116898
2,061
ENSG00000119535
1,362
1,362
ENSG00000119535
missense_variant
NA
NA
1
36,478,315
C
G
true
distal
163
rs3917932
1
Baso,Neutro,WBC
0.42344
63.613
intron_variant
pELS_flank
ENSG00000119535
1,117
ENSG00000119535
637
637
ENSG00000119535
pELS_flank
ENSG00000119535
1,203
ENSG00000119535
1,200
1,200
ENSG00000119535
distal
NA
NA
1
36,835,335
A
T
false
distal
71
rs3767042
0.000399
0.16226
124.61
intron_variant
dELS
ENSG00000163873
6,400
ENSG00000163873
14,338
6,400
ENSG00000163873
dELS
ENSG00000163873
198,793
ENSG00000163873
18,351
18,351
ENSG00000163873
distal
NA
NA
1
36,837,006
T
C
false
distal
71
rs904901
0.00021
0.16908
118.65
intron_variant
dELS
ENSG00000163873
4,729
ENSG00000163873
12,667
4,729
ENSG00000163873
dELS
ENSG00000163873
197,122
ENSG00000163873
16,680
16,680
ENSG00000163873
distal
NA
NA
1
37,497,940
A
G
false
distal
43
rs4653294
0.001093
0.38053
135.76
intron_variant
dELS
ENSG00000163875
1,203
ENSG00000163875
1,203
1,203
ENSG00000163875
dELS
ENSG00000163874
16,249
ENSG00000263675
3,053
3,053
ENSG00000263675
distal
NA
NA
1
37,499,164
A
T
false
distal
153
rs6698178
0.001516
0.35492
105.56
intron_variant
pELS
ENSG00000163875
2,427
ENSG00000263675
1,770
1,770
ENSG00000263675
pELS
ENSG00000163875
15,104
ENSG00000263675
1,829
1,829
ENSG00000263675
distal
NA
NA
1
37,540,562
G
A
false
missense_variant
113
rs147613529
0.000638
0.000472
2.719
missense_variant
missense_variant
ENSG00000163877
0
ENSG00000163877
0
0
ENSG00000163877
missense_variant
ENSG00000163877
13,730
ENSG00000163877
1,031
1,031
ENSG00000163877
missense_variant
NA
NA
1
37,692,586
C
T
false
splicing
183
rs11558851
0.000029
0.17041
83.956
splice_region_variant
splice_region_variant
ENSG00000134690
0
ENSG00000116922
343
0
ENSG00000134690
splice_region_variant
ENSG00000134690
69
ENSG00000116922
343
69
ENSG00000134690
splicing
NA
splicing:b0
1
37,857,470
G
T
false
missense_variant
79
rs41267341
0.000081
0.010103
19.516
missense_variant
missense_variant
ENSG00000188786
0
ENSG00000188786
0
0
ENSG00000188786
missense_variant
ENSG00000188786
2,121
ENSG00000188786
1,068
1,068
ENSG00000188786
missense_variant
NA
NA
1
37,990,434
G
A
false
tss_proximal
143
rs4072980
0.008266
0.40664
147.71
upstream_gene_variant
PLS_flank
ENSG00000183431
411
ENSG00000183431
358
358
ENSG00000183431
tss_proximal
ENSG00000183431
411
ENSG00000183431
358
358
ENSG00000183431
tss_proximal
tss_prox:b1
tss_prox:b1
1
38,093,861
G
A
false
distal
50
rs544700
0.000057
0.26672
6.9187
intron_variant
dELS
ENSG00000185668
47,067
ENSG00000265596
4,531
4,531
ENSG00000265596
dELS
ENSG00000185668
47,067
ENSG00000265596
4,629
4,629
ENSG00000265596
distal
NA
NA
1
38,495,896
G
A
false
non_coding_transcript_exon_variant
123
rs2992432
0.000176
0.31745
19.401
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116954
342,301
ENSG00000238063
0
0
ENSG00000238063
non_coding_transcript_exon_variant
ENSG00000116954
363,875
ENSG00000238063
20,978
20,978
ENSG00000238063
non_coding_transcript_exon_variant
NA
NA
1
38,787,190
C
G
false
distal
59
rs55665869
0.00021
0.0866
28.055
intron_variant
dELS
ENSG00000116954
51,007
ENSG00000284632
2,454
2,454
ENSG00000284632
dELS
ENSG00000116954
72,581
ENSG00000284632
12,681
12,681
ENSG00000284632
distal
NA
NA
1
38,953,243
T
G
false
distal
64
rs80095751
0.00028
0.2218
92.205
intron_variant
dELS
ENSG00000158315
11,412
ENSG00000207466
2,317
2,317
ENSG00000207466
dELS
ENSG00000158315
11,412
ENSG00000207466
2,317
2,317
ENSG00000207466
distal
NA
NA
1
39,269,221
G
C
false
missense_variant
80
rs770833011
0.000104
0.000586
3.3743
missense_variant
missense_variant
ENSG00000127603
0
ENSG00000127603
0
0
ENSG00000127603
missense_variant
ENSG00000127603
693
ENSG00000127603
755
693
ENSG00000127603
missense_variant
NA
NA
1
39,413,694
T
C
false
synonymous_variant
187
rs604316
0.000761
0.30146
343.56
synonymous_variant
synonymous_variant
ENSG00000127603
0
ENSG00000127603
8,679
0
ENSG00000127603
synonymous_variant
ENSG00000127603
288
ENSG00000127603
20,790
288
ENSG00000127603
synonymous_variant
NA
NA
1
39,424,109
G
C
false
missense_variant
77
rs529463765
0.00008
0.000005
1.3702
missense_variant
missense_variant
ENSG00000127603
0
ENSG00000127603
0
0
ENSG00000127603
missense_variant
ENSG00000127603
10,125
ENSG00000127603
10,375
10,125
ENSG00000127603
missense_variant
NA
NA
1
39,424,120
T
G
false
missense_variant
77
rs200516627
0.000161
0.000372
5.9194
missense_variant
missense_variant
ENSG00000127603
0
ENSG00000127603
0
0
ENSG00000127603
missense_variant
ENSG00000127603
10,136
ENSG00000127603
10,364
10,136
ENSG00000127603
missense_variant
NA
NA
1
39,517,350
C
G
false
distal
164
rs61779334
0.00042
0.093931
112.5
intron_variant
pELS_flank
ENSG00000183682
4,025
ENSG00000237624
859
859
ENSG00000237624
pELS_flank
ENSG00000183682
25,713
ENSG00000237624
2,393
2,393
ENSG00000237624
distal
NA
NA
1
39,570,256
G
T
true
tss_proximal
165
rs3768321
0.97396
CRP
0.19719
291.83
intron_variant
dELS_flank
ENSG00000090621
253
ENSG00000228060
223
223
ENSG00000228060
tss_proximal
ENSG00000090621
1,390
ENSG00000090621
265
265
ENSG00000090621
tss_proximal
tss_prox:b2
tss_prox:b1
1
39,629,017
G
A
false
distal
38
rs1180317
0.000505
0.49013
121.34
intron_variant
dELS
ENSG00000163909
1,209
ENSG00000225903
4,398
1,209
ENSG00000163909
dELS
ENSG00000163909
10,625
ENSG00000225903
4,398
4,398
ENSG00000225903
distal
NA
NA
1
39,789,001
A
C
false
non_coding_transcript_exon_variant
121
rs804395
0.001906
0.47
76.577
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116985
135
ENSG00000261798
0
0
ENSG00000261798
non_coding_transcript_exon_variant
ENSG00000116985
135
ENSG00000261798
24
24
ENSG00000261798
non_coding_transcript_exon_variant
NA
NA
1
40,060,321
G
C
false
distal
30
rs4660379
0.001757
0.061798
70.079
intron_variant
dELS
ENSG00000131236
150
ENSG00000131236
6,948
150
ENSG00000131236
dELS
ENSG00000131236
19,438
ENSG00000131236
6,948
6,948
ENSG00000131236
distal
NA
NA
1
40,312,170
A
G
false
non_coding_transcript_exon_variant
120
rs209918
0.00386
0.22829
99.68
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000049089
57
ENSG00000049089
0
0
ENSG00000049089
non_coding_transcript_exon_variant
ENSG00000049089
3,933
ENSG00000049089
3,267
3,267
ENSG00000049089
non_coding_transcript_exon_variant
NA
NA
1
40,374,602
T
C
false
tss_proximal
173
rs562939112
0.000373
0.099418
63.524
intron_variant
pELS
ENSG00000084070
45
ENSG00000213172
9,418
45
ENSG00000084070
tss_proximal
ENSG00000084070
45
ENSG00000213172
9,835
45
ENSG00000084070
tss_proximal
tss_prox:b0
tss_prox:b0
1
40,389,932
C
T
false
distal
62
rs432240
0.000769
0.391
71.11
intron_variant
dELS
ENSG00000084070
3,412
ENSG00000290111
4,830
3,412
ENSG00000084070
dELS
ENSG00000084070
3,412
ENSG00000290111
5,031
3,412
ENSG00000084070
distal
NA
NA
1
40,514,887
G
A
false
missense_variant
103
rs1134586
0.005652
0.17676
202.66
missense_variant
missense_variant
ENSG00000164002
0
ENSG00000227278
0
0
ENSG00000164002
missense_variant
ENSG00000164002
6,080
ENSG00000227278
169
169
ENSG00000227278
missense_variant
NA
NA
1
40,515,059
G
T
false
missense_variant
74
rs11208299
0.000899
0.34644
227.09
missense_variant
missense_variant
ENSG00000164002
0
ENSG00000227278
1
0
ENSG00000164002
missense_variant
ENSG00000164002
6,252
ENSG00000227278
1
1
ENSG00000227278
missense_variant
NA
NA
1
40,533,139
A
G
false
splicing
183
rs6659361
0.006383
0.17649
202.5
splice_region_variant
splice_region_variant
ENSG00000117010
3
ENSG00000117010
3
3
ENSG00000117010
splice_region_variant
ENSG00000117010
1,475
ENSG00000117010
1,416
1,416
ENSG00000117010
splicing
NA
splicing:b0
1
40,630,849
G
A
false
distal
48
rs182431260
0.000068
0.00268
30.065
intron_variant
dELS
ENSG00000117016
1,476
ENSG00000287743
28,998
1,476
ENSG00000117016
dELS
ENSG00000117016
34,595
ENSG00000287743
28,998
28,998
ENSG00000287743
distal
NA
NA
1
40,841,248
C
T
false
distal
37
rs72661523
0.000077
0.071799
23.244
downstream_gene_variant
dELS
ENSG00000117013
795
ENSG00000117013
796
795
ENSG00000117013
dELS
ENSG00000179862
21,114
ENSG00000117013
22,283
21,114
ENSG00000179862
distal
NA
NA
1
40,842,489
C
A
false
distal
37
rs77559383
0.000788
0.077121
40.889
intergenic_variant
dELS
ENSG00000117013
2,036
ENSG00000117013
2,037
2,036
ENSG00000117013
dELS
ENSG00000179862
19,873
ENSG00000229528
21,424
19,873
ENSG00000179862
distal
NA
NA
1
40,862,494
T
C
false
tss_proximal
137
rs143008395
0.002202
0.024682
37.319
upstream_gene_variant
PLS
ENSG00000179862
130
ENSG00000229528
1,419
130
ENSG00000179862
tss_proximal
ENSG00000179862
130
ENSG00000229528
1,419
130
ENSG00000179862
tss_proximal
tss_prox:b1
tss_prox:b1
1
40,863,178
A
G
false
tss_proximal
140
rs2104622
0.000571
0.060073
30.067
upstream_gene_variant
pELS_flank
ENSG00000179862
814
ENSG00000229528
735
735
ENSG00000229528
tss_proximal
ENSG00000179862
814
ENSG00000229528
735
735
ENSG00000229528
tss_proximal
tss_prox:b1
tss_prox:b1
1
41,021,463
A
T
false
5_prime_UTR_variant
125
rs142330169
0.003531
0.011276
31.118
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000171790
0
ENSG00000171790
66
0
ENSG00000171790
5_prime_UTR_variant
ENSG00000171790
253
ENSG00000171790
253
253
ENSG00000171790
5_prime_UTR_variant
NA
NA
1
41,150,616
G
T
false
distal
24
rs12118372
0.004441
0.10127
266.2
intron_variant
dELS_flank
ENSG00000010803
997
ENSG00000010803
997
997
ENSG00000010803
dELS_flank
ENSG00000010803
9,254
ENSG00000010803
9,251
9,251
ENSG00000010803
distal
NA
NA
1
41,366,544
C
T
false
tss_proximal
138
rs12085068
0.000203
0.22721
58.737
intron_variant
PLS_flank
ENSG00000204060
134
ENSG00000204060
4,199
134
ENSG00000204060
tss_proximal
ENSG00000204060
134
ENSG00000204060
4,621
134
ENSG00000204060
tss_proximal
tss_prox:b1
tss_prox:b1
1
41,396,453
A
G
false
distal
1
rs10889978
0.000411
0.21071
60.389
intergenic_variant
dELS_flank
ENSG00000204060
13,771
ENSG00000204060
12,862
12,862
ENSG00000204060
dELS_flank
ENSG00000204060
29,773
ENSG00000229901
20,783
20,783
ENSG00000229901
distal
NA
NA
1
41,472,757
A
G
false
distal
167
rs10789371
0.00022
0.2998
61.382
intergenic_variant
CA_flank
ENSG00000127129
6,017
ENSG00000252563
5,728
5,728
ENSG00000252563
CA_flank
ENSG00000127129
11,925
ENSG00000252563
5,728
5,728
ENSG00000252563
distal
NA
NA
1
41,510,546
G
A
false
missense_variant
84
rs72669005
0.000233
0.04372
39.238
missense_variant
missense_variant
ENSG00000127124
0
ENSG00000127124
0
0
ENSG00000127124
missense_variant
ENSG00000127129
25,862
ENSG00000230881
24,896
24,896
ENSG00000230881
missense_variant
NA
NA
1
41,510,674
T
C
false
missense_variant
84
rs140839222
0.001309
0.029451
28.994
missense_variant
missense_variant
ENSG00000127124
0
ENSG00000127124
0
0
ENSG00000127124
missense_variant
ENSG00000127129
25,990
ENSG00000230881
24,768
24,768
ENSG00000230881
missense_variant
NA
NA
1
41,510,858
C
T
false
missense_variant
84
rs11809423
0.000376
0.037319
40.767
missense_variant
missense_variant
ENSG00000127124
0
ENSG00000127124
0
0
ENSG00000127124
missense_variant
ENSG00000127129
26,174
ENSG00000230881
24,584
24,584
ENSG00000230881
missense_variant
NA
NA
1
41,547,551
C
T
false
distal
60
rs12738987
0.000064
0.041382
58.519
intron_variant
dELS
ENSG00000127124
22,640
ENSG00000230638
3,240
3,240
ENSG00000230638
dELS
ENSG00000127129
62,867
ENSG00000230638
5,481
5,481
ENSG00000230638
distal
NA
NA
1
42,163,675
G
A
false
distal
150
rs2071500
0.000081
0.045264
72.206
intron_variant
pELS
ENSG00000197273
64
ENSG00000228776
22,283
64
ENSG00000197273
pELS
ENSG00000197273
1,069
ENSG00000228776
23,039
1,069
ENSG00000197273
distal
NA
NA
1
42,189,705
C
T
false
5_prime_UTR_variant
126
rs17376918
0.006849
0.10212
99.55
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000198815
0
ENSG00000228776
48,313
0
ENSG00000198815
5_prime_UTR_variant
ENSG00000198815
103
ENSG00000228776
49,069
103
ENSG00000198815
5_prime_UTR_variant
NA
NA
1
42,311,353
G
A
false
distal
29
rs1393009
0.003544
0.2499
290.9
intron_variant
dELS
ENSG00000198815
242
ENSG00000227527
24,032
242
ENSG00000198815
dELS
ENSG00000198815
4,105
ENSG00000227527
27,022
4,105
ENSG00000198815
distal
NA
NA
1
42,555,674
T
C
false
distal
36
rs4385762
0.000541
0.20708
346.06
intron_variant
dELS
ENSG00000186409
481
ENSG00000186409
481
481
ENSG00000186409
dELS
ENSG00000186409
19,100
ENSG00000186409
10,485
10,485
ENSG00000186409
distal
NA
NA
1
42,589,365
G
A
false
missense_variant
106
rs140323754
0.00019
0.010072
27.995
missense_variant
missense_variant
ENSG00000186409
0
ENSG00000186409
0
0
ENSG00000186409
missense_variant
ENSG00000186409
52,791
ENSG00000186409
1,086
1,086
ENSG00000186409
missense_variant
NA
NA
1
42,723,579
C
G
false
distal
47
rs75734305
0.000033
0.012676
70.976
intergenic_variant
dELS
ENSG00000164007
9,513
ENSG00000117385
22,794
9,513
ENSG00000164007
dELS
ENSG00000164007
16,560
ENSG00000117385
23,996
16,560
ENSG00000164007
distal
NA
NA
1
42,747,079
C
T
false
missense_variant
86
rs116577636
0.000715
0.009771
24.502
missense_variant
missense_variant
ENSG00000117385
0
ENSG00000117385
173
0
ENSG00000117385
missense_variant
ENSG00000164007
6,824
ENSG00000117385
496
496
ENSG00000117385
missense_variant
NA
NA
1
42,758,846
C
T
false
splicing
169
rs201085041
0.00009
0.000311
4.0583
splice_donor_region_variant
splice_donor_region_variant
ENSG00000117385
5
ENSG00000117385
5
5
ENSG00000117385
splice_donor_region_variant
ENSG00000117385
8,155
ENSG00000117385
3,556
3,556
ENSG00000117385
splicing
NA
splicing:b1
1
42,795,380
C
A
false
distal
39
rs6600424
0.000097
0.031341
100.16
intron_variant
dELS
ENSG00000274386
766
ENSG00000274386
766
766
ENSG00000274386
dELS
ENSG00000274386
7,389
ENSG00000274386
1,714
1,714
ENSG00000274386
distal
NA
NA
1
42,849,860
T
C
true
tss_proximal
138
rs56653907
1
Height
0.21972
121.27
intron_variant
pELS_flank
ENSG00000164011
117
ENSG00000228192
3,432
117
ENSG00000164011
tss_proximal
ENSG00000164011
304
ENSG00000228192
3,432
304
ENSG00000164011
tss_proximal
tss_prox:b1
tss_prox:b1
1
42,850,295
G
A
false
tss_proximal
138
rs7520697
0.000648
0.21927
121.51
intron_variant
pELS
ENSG00000164011
363
ENSG00000228192
3,867
363
ENSG00000164011
tss_proximal
ENSG00000164011
391
ENSG00000228192
3,867
391
ENSG00000164011
tss_proximal
tss_prox:b1
tss_prox:b1
1
42,932,806
C
G
false
distal
39
rs12071418
0.000676
0.033589
40.716
intron_variant
dELS
ENSG00000117394
1,599
ENSG00000117394
1,036
1,036
ENSG00000117394
dELS
ENSG00000117394
10,431
ENSG00000117394
1,036
1,036
ENSG00000117394
distal
NA
NA
1
42,933,104
G
T
false
distal
39
rs59336549
0.004023
0.036043
15.307
intron_variant
dELS
ENSG00000117394
1,897
ENSG00000117394
1,334
1,334
ENSG00000117394
dELS
ENSG00000117394
10,133
ENSG00000117394
1,334
1,334
ENSG00000117394
distal
NA
NA
1
42,970,380
G
A
true
non_coding_transcript_exon_variant
118
rs841572
0.999465
Ca
0.40667
100.89
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000117394
11,511
ENSG00000227533
0
0
ENSG00000227533
non_coding_transcript_exon_variant
ENSG00000117394
11,511
ENSG00000283973
8,515
8,515
ENSG00000283973
non_coding_transcript_exon_variant
NA
NA
1
43,183,837
A
G
false
missense_variant
96
rs663824
0.000204
0.38819
163.5
missense_variant
missense_variant
ENSG00000243710
0
ENSG00000243710
0
0
ENSG00000243710
missense_variant
ENSG00000117395
11,266
ENSG00000243710
1,040
1,040
ENSG00000243710
missense_variant
NA
NA
1
43,271,335
A
C
false
tss_proximal
143
rs12023180
0.001062
0.40556
78.958
intron_variant
pELS
ENSG00000179178
170
ENSG00000117395
398
170
ENSG00000179178
tss_proximal
ENSG00000179178
388
ENSG00000117395
398
388
ENSG00000179178
tss_proximal
tss_prox:b1
tss_prox:b1
1
43,273,158
G
A
false
missense_variant
87
rs142942435
0.001094
0.019982
18.488
missense_variant
missense_variant
ENSG00000179178
0
ENSG00000117395
2,221
0
ENSG00000179178
missense_variant
ENSG00000179178
2,211
ENSG00000117395
2,221
2,211
ENSG00000179178
missense_variant
NA
NA
1
43,338,634
G
C
true
missense_variant
80
rs28928907
1
Plt
0.000562
6.8604
missense_variant
missense_variant
ENSG00000117400
0
ENSG00000117400
0
0
ENSG00000117400
missense_variant
ENSG00000117400
784
ENSG00000117400
784
784
ENSG00000117400
missense_variant
NA
NA
1
43,338,669
G
A
true
missense_variant
81
rs12731981
0.97338
Plt
0.033149
49.48
missense_variant
missense_variant
ENSG00000117400
0
ENSG00000117400
0
0
ENSG00000117400
missense_variant
ENSG00000117400
819
ENSG00000117400
819
819
ENSG00000117400
missense_variant
NA
NA
1
43,453,742
A
G
false
missense_variant
74
rs6692611
0.001892
0.34771
122.81
missense_variant
missense_variant
ENSG00000198198
0
ENSG00000178922
0
0
ENSG00000198198
missense_variant
ENSG00000178922
25
ENSG00000178922
65
25
ENSG00000178922
missense_variant
NA
NA
1
43,639,388
T
C
false
distal
159
rs12034875
0.004238
0.32533
294.84
intergenic_variant
intergenic_variant
ENSG00000066135
10,760
ENSG00000284989
10,760
10,760
ENSG00000066135
intergenic_variant
ENSG00000066135
10,760
ENSG00000284989
10,760
10,760
ENSG00000066135
distal
NA
NA
1
43,750,705
T
C
false
distal
0
rs6668616
0.002319
0.31041
291.22
intron_variant
dELS_flank
ENSG00000126091
14,279
ENSG00000233674
6,963
6,963
ENSG00000233674
dELS_flank
ENSG00000126091
14,335
ENSG00000233674
7,233
7,233
ENSG00000233674
distal
NA
NA
1
43,920,943
A
G
false
splicing
168
rs3120803
0.000087
0.07656
154.88
splice_donor_region_variant
splice_donor_region_variant
ENSG00000126091
2
ENSG00000126091
14
2
ENSG00000126091
splice_donor_region_variant
ENSG00000117407
12,376
ENSG00000126091
1,829
1,829
ENSG00000126091
splicing
NA
splicing:b0