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
11
2,751,493
C
T
false
distal
324
rs35321559
0.000281
0.030923
15.411
intron_variant
dELS
ENSG00000053918
17,350
ENSG00000236041
19,862
17,350
ENSG00000053918
dELS
ENSG00000053918
26,081
ENSG00000236041
19,862
19,862
ENSG00000236041
distal
NA
NA
11
2,773,762
G
C
false
distal
318
rs375116
0.001209
0.18036
47.801
intron_variant
dELS
ENSG00000053918
2,197
ENSG00000236041
2,184
2,184
ENSG00000236041
dELS
ENSG00000053918
3,812
ENSG00000236041
2,405
2,405
ENSG00000236041
distal
NA
NA
11
2,777,574
A
C
true
tss_proximal
355
rs81205
0.99309
eGFR,sCr
0.46253
28.039
intron_variant
PLS
ENSG00000053918
0
ENSG00000236041
5,996
0
ENSG00000053918
tss_proximal
ENSG00000053918
0
ENSG00000236041
6,217
0
ENSG00000053918
tss_proximal
tss_prox:b0
tss_prox:b0
11
2,791,814
G
A
false
distal
319
rs562982262
0.005552
0.013505
14.028
intron_variant
dELS
ENSG00000053918
13,776
ENSG00000236041
20,236
13,776
ENSG00000053918
dELS
ENSG00000053918
14,238
ENSG00000236041
20,457
14,238
ENSG00000053918
distal
NA
NA
11
2,791,854
G
C
false
distal
319
rs190728714
0.000114
0.010033
10.658
intron_variant
dELS
ENSG00000053918
13,816
ENSG00000236041
20,276
13,816
ENSG00000053918
dELS
ENSG00000053918
14,278
ENSG00000236041
20,497
14,278
ENSG00000053918
distal
NA
NA
11
2,792,092
C
T
true
distal
319
rs143840904
1
BW,Height
0.01934
7.8673
intron_variant
dELS
ENSG00000053918
14,054
ENSG00000236041
20,514
14,054
ENSG00000053918
dELS
ENSG00000053918
14,516
ENSG00000236041
20,735
14,516
ENSG00000053918
distal
NA
NA
11
2,835,964
A
C
true
distal
320
rs2237895
0.997375
HbA1c
0.41567
30.963
intron_variant
dELS
ENSG00000053918
3,751
ENSG00000229414
4,170
3,751
ENSG00000053918
dELS
ENSG00000129757
49,763
ENSG00000229414
25,603
25,603
ENSG00000229414
distal
NA
NA
11
2,837,570
G
C
true
distal
356
rs458069
0.98979
LOY
0.29849
34.265
intron_variant
dELS_flank
ENSG00000053918
2,145
ENSG00000229414
2,564
2,145
ENSG00000053918
dELS_flank
ENSG00000129757
48,157
ENSG00000229414
23,997
23,997
ENSG00000229414
distal
NA
NA
11
2,837,825
G
A
false
distal
320
rs234868
0.000979
0.42349
28.784
intron_variant
dELS
ENSG00000053918
1,890
ENSG00000229414
2,309
1,890
ENSG00000053918
dELS
ENSG00000129757
47,902
ENSG00000229414
23,742
23,742
ENSG00000229414
distal
NA
NA
11
2,838,311
A
G
false
distal
320
rs234869
0.001698
0.42691
21.253
intron_variant
dELS
ENSG00000053918
1,404
ENSG00000229414
1,823
1,404
ENSG00000053918
dELS
ENSG00000129757
47,416
ENSG00000229414
23,256
23,256
ENSG00000229414
distal
NA
NA
11
2,902,596
A
G
false
5_prime_UTR_variant
281
rs367035
0.003267
0.43545
42.868
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000110628
0
ENSG00000254827
0
0
ENSG00000110628
5_prime_UTR_variant
ENSG00000110628
175
ENSG00000110628
779
175
ENSG00000110628
5_prime_UTR_variant
NA
NA
11
3,046,011
G
A
false
distal
363
rs146919113
0.000047
0.005089
10.349
intron_variant
dELS_flank
ENSG00000110619
1,741
ENSG00000110619
1,741
1,741
ENSG00000110619
dELS_flank
ENSG00000110619
11,390
ENSG00000201616
2,509
2,509
ENSG00000201616
distal
NA
NA
11
3,058,533
C
A
false
tss_proximal
381
rs11025209
0.001425
0.40349
176.82
intron_variant
pELS_flank
ENSG00000110619
919
ENSG00000285644
877
877
ENSG00000285644
tss_proximal
ENSG00000110619
919
ENSG00000285644
994
919
ENSG00000110619
tss_proximal
tss_prox:b1
tss_prox:b1
11
3,072,415
G
A
false
distal
370
rs4758466
0.000226
0.48713
170.03
intergenic_variant
intergenic_variant
ENSG00000021762
14,691
ENSG00000285644
7,707
7,707
ENSG00000285644
intergenic_variant
ENSG00000110619
14,801
ENSG00000236710
13,027
13,027
ENSG00000236710
distal
NA
NA
11
3,129,252
A
G
false
5_prime_UTR_variant
283
rs11025526
0.000132
0.20137
46.513
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000021762
0
ENSG00000021762
82
0
ENSG00000021762
5_prime_UTR_variant
ENSG00000021762
76
ENSG00000021762
2,607
76
ENSG00000021762
5_prime_UTR_variant
NA
NA
11
3,160,990
G
A
false
5_prime_UTR_variant
284
rs149602015
0.000139
0.006152
10.241
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000021762
0
ENSG00000021762
4,225
0
ENSG00000021762
5_prime_UTR_variant
ENSG00000021762
402
ENSG00000021762
4,282
402
ENSG00000021762
5_prime_UTR_variant
NA
NA
11
3,163,662
C
T
false
tss_proximal
376
rs145573506
0.000074
0.020868
44.46
intron_variant
pELS
ENSG00000021762
277
ENSG00000021762
1,553
277
ENSG00000021762
tss_proximal
ENSG00000021762
760
ENSG00000021762
1,610
760
ENSG00000021762
tss_proximal
tss_prox:b1
tss_prox:b1
11
3,364,529
A
G
false
non_coding_transcript_exon_variant
354
rs11026746
0.000063
0.37264
58.828
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000005801
1,926
ENSG00000005801
0
0
ENSG00000005801
non_coding_transcript_exon_variant
ENSG00000005801
14,570
ENSG00000005801
1,697
1,697
ENSG00000005801
non_coding_transcript_exon_variant
NA
NA
11
3,642,043
C
T
false
tss_proximal
355
rs7112533
0.00005
0.43152
52.379
intron_variant
PLS
ENSG00000167311
50
ENSG00000129744
3,084
50
ENSG00000167311
tss_proximal
ENSG00000167311
50
ENSG00000129744
3,084
50
ENSG00000167311
tss_proximal
tss_prox:b0
tss_prox:b0
11
3,647,273
G
T
false
distal
345
rs4910885
0.000247
0.23776
70.035
intron_variant
pELS_flank
ENSG00000129744
2,093
ENSG00000129744
2,093
2,093
ENSG00000129744
pELS_flank
ENSG00000129744
2,144
ENSG00000129744
2,144
2,144
ENSG00000129744
distal
NA
NA
11
3,669,328
G
T
false
missense_variant
292
rs55719530
0.000023
0.019694
45.225
missense_variant
missense_variant
ENSG00000129749
0
ENSG00000129749
0
0
ENSG00000129749
missense_variant
ENSG00000129749
2,038
ENSG00000129749
558
558
ENSG00000129749
missense_variant
NA
NA
11
3,673,686
C
T
false
distal
385
rs140575472
0.000147
0.23618
129.58
intron_variant
intron_variant
ENSG00000110713
1,324
ENSG00000110713
1,343
1,324
ENSG00000110713
intron_variant
ENSG00000129749
2,301
ENSG00000129749
2,318
2,301
ENSG00000129749
distal
NA
NA
11
3,678,234
A
G
false
distal
385
rs7945156
0.00013
0.23655
128.77
intron_variant
intron_variant
ENSG00000110713
1,319
ENSG00000110713
1,319
1,319
ENSG00000110713
intron_variant
ENSG00000110713
1,452
ENSG00000110713
1,523
1,452
ENSG00000110713
distal
NA
NA
11
3,679,073
C
T
false
tss_proximal
379
rs528094707
0.000045
0.002595
9.319
intron_variant
intron_variant
ENSG00000110713
480
ENSG00000110713
480
480
ENSG00000110713
tss_proximal
ENSG00000110713
613
ENSG00000110713
1,994
613
ENSG00000110713
tss_proximal
tss_prox:b1
tss_prox:b1
11
3,679,646
C
T
false
missense_variant
292
rs34446357
0.000314
0.017316
11.278
missense_variant
missense_variant
ENSG00000110713
0
ENSG00000110713
0
0
ENSG00000110713
missense_variant
ENSG00000110713
40
ENSG00000110713
1,421
40
ENSG00000110713
missense_variant
NA
NA
11
3,705,767
A
G
false
tss_proximal
379
rs558988003
0.000003
0.000866
5.3839
intron_variant
intron_variant
ENSG00000110713
410
ENSG00000110713
410
410
ENSG00000110713
tss_proximal
ENSG00000110713
767
ENSG00000289468
1,986
767
ENSG00000110713
tss_proximal
tss_prox:b1
tss_prox:b1
11
3,705,947
C
T
false
tss_proximal
379
rs541451411
0.000033
0.002092
4.5643
intron_variant
intron_variant
ENSG00000110713
497
ENSG00000110713
497
497
ENSG00000110713
tss_proximal
ENSG00000110713
587
ENSG00000289468
1,806
587
ENSG00000110713
tss_proximal
tss_prox:b1
tss_prox:b1
11
3,733,338
T
C
false
distal
330
rs61877582
0.000171
0.068125
197.62
intron_variant
dELS
ENSG00000110713
1,759
ENSG00000110713
1,759
1,759
ENSG00000110713
dELS
ENSG00000110713
10,135
ENSG00000110713
12,298
10,135
ENSG00000110713
distal
NA
NA
11
4,020,839
G
C
false
distal
400
rs2923950
0.001354
0.38224
343.27
intron_variant
pELS
ENSG00000167323
3,033
ENSG00000240385
1,720
1,720
ENSG00000240385
pELS
ENSG00000167323
37,909
ENSG00000240385
1,890
1,890
ENSG00000240385
distal
NA
NA
11
4,067,126
G
A
false
distal
330
rs2920142
0.00011
0.0829
179.99
intron_variant
dELS
ENSG00000167323
2,899
ENSG00000167323
2,899
2,899
ENSG00000167323
dELS
ENSG00000167323
8,376
ENSG00000167323
11,602
8,376
ENSG00000167323
distal
NA
NA
11
4,082,857
T
C
false
splicing
406
rs10767828
0.000119
0.11074
194.43
splice_region_variant
splice_region_variant
ENSG00000167323
3
ENSG00000167323
0
0
ENSG00000167323
splice_region_variant
ENSG00000167325
11,941
ENSG00000167323
299
299
ENSG00000167323
splicing
NA
splicing:b0
11
4,094,744
C
A
false
non_coding_transcript_exon_variant
350
rs12806698
0.000099
0.26473
249.46
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000167325
54
ENSG00000167325
0
0
ENSG00000167325
non_coding_transcript_exon_variant
ENSG00000167325
54
ENSG00000167325
36
36
ENSG00000167325
non_coding_transcript_exon_variant
NA
NA
11
4,122,491
G
T
false
tss_proximal
375
rs4910886
0.002551
0.33656
339.13
intron_variant
intron_variant
ENSG00000167325
270
ENSG00000167325
270
270
ENSG00000167325
tss_proximal
ENSG00000167325
6,412
ENSG00000167325
381
381
ENSG00000167325
tss_proximal
tss_prox:b2
tss_prox:b1
11
4,122,656
T
G
false
tss_proximal
375
rs4910887
0.002571
0.33693
339.42
intron_variant
intron_variant
ENSG00000167325
435
ENSG00000167325
435
435
ENSG00000167325
tss_proximal
ENSG00000167325
6,577
ENSG00000167325
546
546
ENSG00000167325
tss_proximal
tss_prox:b2
tss_prox:b1
11
4,122,760
C
A
false
tss_proximal
375
rs35359151
0.002759
0.33684
339.51
intron_variant
intron_variant
ENSG00000167325
422
ENSG00000167325
422
422
ENSG00000167325
tss_proximal
ENSG00000167325
6,681
ENSG00000167325
650
650
ENSG00000167325
tss_proximal
tss_prox:b2
tss_prox:b1
11
4,368,409
G
A
false
tss_proximal
355
rs4910623
0.00011
0.4878
169.11
upstream_gene_variant
upstream_gene_variant
ENSG00000221996
22
ENSG00000175800
9,872
22
ENSG00000221996
tss_proximal
ENSG00000221996
22
ENSG00000175800
9,872
22
ENSG00000221996
tss_proximal
tss_prox:b0
tss_prox:b0
11
4,465,563
A
G
false
distal
332
rs36049268
0.000063
0.076209
63.822
intron_variant
dELS
ENSG00000181963
15,201
ENSG00000225101
3,803
3,803
ENSG00000225101
dELS
ENSG00000181963
16,267
ENSG00000225101
9,249
9,249
ENSG00000225101
distal
NA
NA
11
4,594,832
C
T
false
missense_variant
310
rs61997187
0.000069
0.066606
203.8
missense_variant
missense_variant
ENSG00000232268
0
ENSG00000167333
3,947
0
ENSG00000232268
missense_variant
ENSG00000232268
792
ENSG00000167333
6,732
792
ENSG00000232268
missense_variant
NA
NA
11
4,594,889
T
C
false
missense_variant
310
rs61997192
0.000056
0.066156
204.05
missense_variant
missense_variant
ENSG00000232268
0
ENSG00000167333
3,890
0
ENSG00000232268
missense_variant
ENSG00000232268
849
ENSG00000167333
6,675
849
ENSG00000232268
missense_variant
NA
NA
11
4,999,569
C
T
false
missense_variant
287
rs10768448
0.000033
0.29826
208.36
missense_variant
missense_variant
ENSG00000176798
0
ENSG00000176798
1,985
0
ENSG00000176798
missense_variant
ENSG00000176798
4,717
ENSG00000176798
4,717
4,717
ENSG00000176798
missense_variant
NA
NA
11
4,999,602
C
T
false
missense_variant
287
rs10768450
0.000033
0.29831
208.03
missense_variant
missense_variant
ENSG00000176798
0
ENSG00000176798
2,018
0
ENSG00000176798
missense_variant
ENSG00000176798
4,750
ENSG00000176798
4,750
4,750
ENSG00000176798
missense_variant
NA
NA
11
5,035,736
A
T
true
distal
368
rs549706928
0.90338
MCV
0.002708
8.4523
intergenic_variant
intergenic_variant
ENSG00000205495
10,789
ENSG00000230261
1,276
1,276
ENSG00000230261
intergenic_variant
ENSG00000205495
10,789
ENSG00000230261
1,276
1,276
ENSG00000230261
distal
NA
NA
11
5,084,733
G
A
false
distal
372
rs79344971
0.000024
0.002475
21.891
intergenic_variant
intergenic_variant
ENSG00000176787
25,105
ENSG00000237354
7,666
7,666
ENSG00000237354
intergenic_variant
ENSG00000176787
25,105
ENSG00000237354
7,666
7,666
ENSG00000237354
distal
NA
NA
11
5,163,527
C
T
false
distal
322
rs11603140
0.000945
0.2599
190.16
intergenic_variant
dELS
ENSG00000182070
8,769
ENSG00000176752
6,823
6,823
ENSG00000176752
dELS
ENSG00000182070
8,769
ENSG00000176752
7,768
7,768
ENSG00000176752
distal
NA
NA
11
5,225,678
C
G
true
missense_variant
293
rs33946267
0.99947
MCV
0.000254
1.6298
missense_variant
missense_variant
ENSG00000244734
0
ENSG00000244734
0
0
ENSG00000244734
missense_variant
ENSG00000244734
1,392
ENSG00000285498
216
216
ENSG00000285498
missense_variant
NA
NA
11
5,235,417
A
G
false
tss_proximal
355
rs7948668
0.000658
0.46985
125.6
intron_variant
pELS
ENSG00000223609
46
ENSG00000229988
5,687
46
ENSG00000223609
tss_proximal
ENSG00000223609
46
ENSG00000229988
8,115
46
ENSG00000223609
tss_proximal
tss_prox:b0
tss_prox:b0
11
5,249,456
G
A
false
missense_variant
289
rs1061234
0.000043
0.31843
86.418
missense_variant
missense_variant
ENSG00000213934
0
ENSG00000213934
0
0
ENSG00000213934
missense_variant
ENSG00000213934
379
ENSG00000213934
398
379
ENSG00000213934
missense_variant
NA
NA
11
5,341,877
C
G
false
distal
388
rs7938837
0.000024
0.049399
149.59
intron_variant
intron_variant
ENSG00000167355
708
ENSG00000167355
514
514
ENSG00000167355
intron_variant
ENSG00000167355
1,646
ENSG00000239920
3,983
1,646
ENSG00000167355
distal
NA
NA
11
5,529,447
A
T
false
distal
368
rs541399872
0.000007
0.001194
12.009
intergenic_variant
intergenic_variant
ENSG00000175518
11,015
ENSG00000249633
1,272
1,272
ENSG00000249633
intergenic_variant
ENSG00000175518
11,015
ENSG00000249633
1,272
1,272
ENSG00000249633
distal
NA
NA
11
5,569,077
C
T
false
distal
368
rs555396266
0.000056
0.003038
13.434
intergenic_variant
intergenic_variant
ENSG00000187747
11,799
ENSG00000233646
1,460
1,460
ENSG00000233646
intergenic_variant
ENSG00000187747
11,799
ENSG00000233646
1,460
1,460
ENSG00000233646
distal
NA
NA
11
5,604,758
T
C
false
5_prime_UTR_variant
283
rs17304278
0.000013
0.20328
62.704
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000121236
0
ENSG00000121236
413
0
ENSG00000121236
5_prime_UTR_variant
ENSG00000121236
1,444
ENSG00000121236
413
413
ENSG00000121236
5_prime_UTR_variant
NA
NA
11
5,609,913
A
C
false
distal
388
rs35434000
0.000058
0.052669
28.899
intron_variant
intron_variant
ENSG00000121236
231
ENSG00000121236
231
231
ENSG00000121236
intron_variant
ENSG00000121236
6,599
ENSG00000121236
4,363
4,363
ENSG00000121236
distal
NA
NA
11
5,679,844
C
A
true
missense_variant
294
rs11601507
1
ALP,ALT,AST,ApoA,ApoB,LDLC,Plt,SHBG,TBil
0.068526
28.16
missense_variant
missense_variant
ENSG00000132256
0
ENSG00000132256
0
0
ENSG00000132256
missense_variant
ENSG00000132256
36
ENSG00000132256
10
10
ENSG00000132256
missense_variant
NA
NA
11
5,680,179
G
C
true
5_prime_UTR_variant
281
rs3824949
0.9785
Plt
0.44186
76.357
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132256
0
ENSG00000132256
0
0
ENSG00000132256
5_prime_UTR_variant
ENSG00000132256
371
ENSG00000132256
52
52
ENSG00000132256
5_prime_UTR_variant
NA
NA
11
5,718,785
G
A
false
tss_proximal
391
rs72882056
0.000009
0.055827
30.066
intron_variant
pELS_flank
ENSG00000132274
3,741
ENSG00000232381
504
504
ENSG00000232381
tss_proximal
ENSG00000132274
10,576
ENSG00000232381
504
504
ENSG00000232381
tss_proximal
tss_prox:b2
tss_prox:b2
11
5,727,124
C
T
false
missense_variant
298
rs7944807
0.000007
0.40754
102.52
missense_variant
missense_variant
ENSG00000132274
7,054
ENSG00000181109
0
0
ENSG00000181109
missense_variant
ENSG00000181023
9,323
ENSG00000181109
621
621
ENSG00000181109
missense_variant
NA
NA
11
5,791,597
T
C
false
tss_proximal
377
rs11039053
0.000022
0.11171
219.59
intron_variant
intron_variant
ENSG00000181001
331
ENSG00000236965
8,766
331
ENSG00000181001
tss_proximal
ENSG00000181001
331
ENSG00000236965
8,766
331
ENSG00000181001
tss_proximal
tss_prox:b1
tss_prox:b1
11
5,808,973
A
G
false
5_prime_UTR_variant
280
rs9630185
0.000008
0.37516
280.81
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000180988
0
ENSG00000236965
7,675
0
ENSG00000180988
5_prime_UTR_variant
ENSG00000180988
48
ENSG00000236965
8,608
48
ENSG00000180988
5_prime_UTR_variant
NA
NA
11
5,820,471
G
A
false
missense_variant
309
rs73394370
0.00003
0.067634
232.33
missense_variant
missense_variant
ENSG00000180988
0
ENSG00000236965
19,173
0
ENSG00000180988
missense_variant
ENSG00000180988
11,546
ENSG00000236965
20,106
11,546
ENSG00000180988
missense_variant
NA
NA
11
5,820,696
G
A
false
missense_variant
309
rs73394377
0.000031
0.067615
232.36
missense_variant
missense_variant
ENSG00000180988
0
ENSG00000236965
19,398
0
ENSG00000180988
missense_variant
ENSG00000180988
11,771
ENSG00000236965
20,331
11,771
ENSG00000180988
missense_variant
NA
NA
11
5,821,099
T
G
false
missense_variant
309
rs74377989
0.000036
0.067778
231.77
missense_variant
missense_variant
ENSG00000180988
0
ENSG00000236965
19,801
0
ENSG00000180988
missense_variant
ENSG00000180988
12,174
ENSG00000236965
20,734
12,174
ENSG00000180988
missense_variant
NA
NA
11
5,821,154
C
G
false
missense_variant
309
rs62621415
0.000028
0.067646
232.26
missense_variant
missense_variant
ENSG00000180988
0
ENSG00000236965
19,856
0
ENSG00000180988
missense_variant
ENSG00000180988
12,229
ENSG00000236965
20,789
12,229
ENSG00000180988
missense_variant
NA
NA
11
5,874,524
T
C
false
non_coding_transcript_exon_variant
350
rs10838772
0.000645
0.26651
301.18
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000132256
2,165
ENSG00000233563
0
0
ENSG00000233563
non_coding_transcript_exon_variant
ENSG00000132256
2,165
ENSG00000233563
563
563
ENSG00000233563
non_coding_transcript_exon_variant
NA
NA
11
6,007,038
G
A
false
tss_proximal
355
rs6578718
0.00007
0.48041
93.961
upstream_gene_variant
upstream_gene_variant
ENSG00000183389
91
ENSG00000202147
9,957
91
ENSG00000183389
tss_proximal
ENSG00000183389
91
ENSG00000202147
9,957
91
ENSG00000183389
tss_proximal
tss_prox:b0
tss_prox:b0
11
6,333,294
G
A
false
distal
332
rs1552515
0.000031
0.08952
39.424
intron_variant
dELS
ENSG00000170955
12,761
ENSG00000282556
321
321
ENSG00000282556
dELS
ENSG00000170955
12,761
ENSG00000282556
9,739
9,739
ENSG00000282556
distal
NA
NA
11
6,384,721
A
G
false
distal
358
rs4237776
0.000093
0.4163
34.955
intergenic_variant
dELS_flank
ENSG00000166311
5,724
ENSG00000166311
5,718
5,718
ENSG00000166311
dELS_flank
ENSG00000166311
5,724
ENSG00000166311
5,718
5,718
ENSG00000166311
distal
NA
NA
11
6,406,136
C
T
false
tss_proximal
376
rs34271039
0.000007
0.018846
15.035
intron_variant
pELS
ENSG00000166313
475
ENSG00000166313
1,272
475
ENSG00000166313
tss_proximal
ENSG00000166313
475
ENSG00000166313
1,272
475
ENSG00000166313
tss_proximal
tss_prox:b1
tss_prox:b1
11
6,416,005
C
G
false
distal
339
rs2634189
0.000017
0.28294
22.95
intron_variant
dELS
ENSG00000166313
2,979
ENSG00000166313
2,979
2,979
ENSG00000166313
dELS
ENSG00000166313
3,064
ENSG00000166313
3,065
3,064
ENSG00000166313
distal
NA
NA
11
6,419,216
A
G
false
tss_proximal
378
rs67622999
0.000015
0.24353
46.117
intron_variant
PLS
ENSG00000166313
121
ENSG00000166313
144
121
ENSG00000166313
tss_proximal
ENSG00000166313
121
ENSG00000166313
144
121
ENSG00000166313
tss_proximal
tss_prox:b1
tss_prox:b1
11
6,440,047
T
A
false
non_coding_transcript_exon_variant
350
rs2682099
0.000013
0.26321
21.909
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000110169
117
ENSG00000110169
0
0
ENSG00000110169
non_coding_transcript_exon_variant
ENSG00000110169
939
ENSG00000110169
691
691
ENSG00000110169
non_coding_transcript_exon_variant
NA
NA
11
6,486,401
T
C
false
distal
318
rs72898291
0.000006
0.18464
74.728
intergenic_variant
dELS
ENSG00000132286
1,719
ENSG00000254595
1,784
1,719
ENSG00000132286
dELS
ENSG00000132286
4,899
ENSG00000254595
2,975
2,975
ENSG00000254595
distal
NA
NA
11
6,486,450
A
G
false
distal
318
rs72895989
0.000006
0.18486
74.773
intergenic_variant
dELS
ENSG00000132286
1,768
ENSG00000254595
1,735
1,735
ENSG00000254595
dELS
ENSG00000132286
4,948
ENSG00000254595
2,926
2,926
ENSG00000254595
distal
NA
NA
11
6,533,711
C
A
false
missense_variant
312
rs4282961
0.00001
0.31887
87.555
missense_variant
missense_variant
ENSG00000179532
0
ENSG00000179532
0
0
ENSG00000179532
missense_variant
ENSG00000179532
32,895
ENSG00000179532
212
212
ENSG00000179532
missense_variant
NA
NA
11
6,540,030
G
A
false
missense_variant
295
rs200288379
0.000034
0.000972
3.1298
missense_variant
missense_variant
ENSG00000179532
0
ENSG00000179532
0
0
ENSG00000179532
missense_variant
ENSG00000179532
26,576
ENSG00000179532
6,012
6,012
ENSG00000179532
missense_variant
NA
NA
11
6,563,802
G
A
false
missense_variant
291
rs11604232
0.000011
0.016096
24.985
missense_variant
missense_variant
ENSG00000179532
0
ENSG00000179532
0
0
ENSG00000179532
missense_variant
ENSG00000179532
2,804
ENSG00000179532
274
274
ENSG00000179532
missense_variant
NA
NA
11
6,572,850
C
T
false
distal
366
rs34194966
0.000117
0.024024
14.687
intron_variant
dELS_flank
ENSG00000179532
829
ENSG00000179532
822
822
ENSG00000179532
dELS_flank
ENSG00000179532
4,144
ENSG00000179532
5,500
4,144
ENSG00000179532
distal
NA
NA
11
6,603,668
G
A
false
non_coding_transcript_exon_variant
349
rs2555180
0.000092
0.25989
50.646
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000166333
39
ENSG00000254400
0
0
ENSG00000254400
non_coding_transcript_exon_variant
ENSG00000166333
39
ENSG00000166333
62
39
ENSG00000166333
non_coding_transcript_exon_variant
NA
NA
11
6,640,369
G
T
false
missense_variant
316
rs117368891
0.006294
0.009048
14.704
missense_variant
missense_variant
ENSG00000166341
0
ENSG00000255410
5,160
0
ENSG00000166341
missense_variant
ENSG00000166341
15,439
ENSG00000166341
6,478
6,478
ENSG00000166341
missense_variant
NA
NA
11
6,682,820
G
A
false
splicing
405
rs16917042
0.001403
0.067505
69.291
splice_region_variant
splice_region_variant
ENSG00000158042
4
ENSG00000158042
0
0
ENSG00000158042
splice_region_variant
ENSG00000158042
495
ENSG00000158042
419
419
ENSG00000158042
splicing
NA
splicing:b0
11
6,736,779
T
C
false
distal
331
rs78640746
0.000065
0.019729
19.313
intron_variant
dELS
ENSG00000188124
28,846
ENSG00000254838
2,611
2,611
ENSG00000254838
dELS
ENSG00000188124
35,196
ENSG00000254838
9,659
9,659
ENSG00000254838
distal
NA
NA
11
6,787,031
C
T
false
3_prime_UTR_variant
393
rs611480
0.00009
0.14121
183.48
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000279486
0
ENSG00000279486
1,628
0
ENSG00000279486
3_prime_UTR_variant
ENSG00000279486
4,010
ENSG00000279486
4,010
4,010
ENSG00000279486
3_prime_UTR_variant
NA
NA
11
6,787,170
A
G
false
3_prime_UTR_variant
393
rs840325
0.000076
0.14098
183.46
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000279486
0
ENSG00000279486
1,767
0
ENSG00000279486
3_prime_UTR_variant
ENSG00000279486
4,149
ENSG00000279486
4,149
4,149
ENSG00000279486
3_prime_UTR_variant
NA
NA
11
6,846,719
G
A
false
distal
385
rs2595440
0.000051
0.24168
262.99
intron_variant
intron_variant
ENSG00000166363
82
ENSG00000254712
2,052
82
ENSG00000166363
intron_variant
ENSG00000166363
1,035
ENSG00000254712
2,052
1,035
ENSG00000166363
distal
NA
NA
11
7,436,860
A
G
false
distal
400
rs7102917
0.000014
0.36917
64.36
intron_variant
pELS
ENSG00000170743
16,224
ENSG00000251364
766
766
ENSG00000251364
pELS
ENSG00000183801
48,527
ENSG00000251364
1,229
1,229
ENSG00000251364
distal
NA
NA
11
7,436,868
C
T
false
distal
400
rs4313570
0.000025
0.42354
54.948
intron_variant
pELS
ENSG00000170743
16,232
ENSG00000251364
758
758
ENSG00000251364
pELS
ENSG00000183801
48,519
ENSG00000251364
1,237
1,237
ENSG00000251364
distal
NA
NA
11
7,436,992
C
A
false
distal
400
rs4319495
0.000024
0.42371
54.903
intron_variant
pELS
ENSG00000170743
16,356
ENSG00000251364
634
634
ENSG00000251364
pELS
ENSG00000183801
48,395
ENSG00000251364
1,361
1,361
ENSG00000251364
distal
NA
NA
11
7,449,373
C
T
false
distal
331
rs144526047
0.000021
0.035783
17.483
intron_variant
dELS
ENSG00000170743
17,418
ENSG00000251364
999
999
ENSG00000251364
dELS
ENSG00000183801
36,014
ENSG00000251364
8,680
8,680
ENSG00000251364
distal
NA
NA
11
7,449,666
C
G
false
distal
331
rs117632458
0.000011
0.025674
18.318
intron_variant
dELS
ENSG00000170743
17,125
ENSG00000251364
706
706
ENSG00000251364
dELS
ENSG00000183801
35,721
ENSG00000251364
8,973
8,973
ENSG00000251364
distal
NA
NA
11
7,463,056
C
T
false
distal
402
rs12790440
0.000014
0.27497
93.143
intron_variant
CA-TF
ENSG00000170743
3,735
ENSG00000251364
1,711
1,711
ENSG00000251364
CA-TF
ENSG00000183801
22,331
ENSG00000251364
1,711
1,711
ENSG00000251364
distal
NA
NA
11
7,471,399
T
G
false
distal
341
rs7952689
0.000035
0.42173
60.033
intron_variant
dELS
ENSG00000170743
2,355
ENSG00000251364
1,632
1,632
ENSG00000251364
dELS
ENSG00000183801
13,988
ENSG00000251364
5,563
5,563
ENSG00000251364
distal
NA
NA
11
7,485,943
C
T
false
missense_variant
290
rs80215761
0.000228
0.037089
56.912
missense_variant
missense_variant
ENSG00000183801
0
ENSG00000183801
0
0
ENSG00000183801
missense_variant
ENSG00000183801
336
ENSG00000183801
416
336
ENSG00000183801
missense_variant
NA
NA
11
7,505,222
C
T
false
tss_proximal
391
rs78389294
0.000161
0.059274
47.881
intron_variant
pELS_flank
ENSG00000183801
4,175
ENSG00000251364
349
349
ENSG00000251364
tss_proximal
ENSG00000166387
8,075
ENSG00000251364
349
349
ENSG00000251364
tss_proximal
tss_prox:b2
tss_prox:b2
11
7,513,963
G
C
false
5_prime_UTR_variant
282
rs368304049
0.000075
0.012379
25.193
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000166387
0
ENSG00000251364
297
0
ENSG00000166387
5_prime_UTR_variant
ENSG00000166387
14
ENSG00000251364
297
14
ENSG00000166387
5_prime_UTR_variant
NA
NA
11
7,520,280
C
T
false
distal
358
rs4078279
0.000014
0.41426
72.296
intron_variant
dELS_flank
ENSG00000166387
6,158
ENSG00000251364
6,614
6,158
ENSG00000166387
dELS_flank
ENSG00000166387
6,280
ENSG00000251364
6,614
6,280
ENSG00000166387
distal
NA
NA
11
7,594,960
C
T
false
distal
345
rs9787734
0.000011
0.23801
56.379
intron_variant
pELS_flank
ENSG00000166387
1,735
ENSG00000166387
1,735
1,735
ENSG00000166387
pELS_flank
ENSG00000166387
2,225
ENSG00000166387
2,276
2,225
ENSG00000166387
distal
NA
NA
11
7,598,031
T
C
false
non_coding_transcript_exon_variant
350
rs4758205
0.00011
0.26339
34.75
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000166387
215
ENSG00000166387
0
0
ENSG00000166387
non_coding_transcript_exon_variant
ENSG00000166387
844
ENSG00000166387
443
443
ENSG00000166387
non_coding_transcript_exon_variant
NA
NA
11
7,598,287
T
C
false
missense_variant
294
rs4758206
0.000068
0.07229
36.325
missense_variant
missense_variant
ENSG00000166387
0
ENSG00000166387
0
0
ENSG00000166387
missense_variant
ENSG00000166387
1,100
ENSG00000166387
699
699
ENSG00000166387
missense_variant
NA
NA
11
7,647,678
C
T
false
tss_proximal
374
rs11041495
0.000057
0.48764
91.375
intron_variant
dELS_flank
ENSG00000166387
708
ENSG00000166387
429
429
ENSG00000166387
tss_proximal
ENSG00000166387
4,036
ENSG00000166387
429
429
ENSG00000166387
tss_proximal
tss_prox:b2
tss_prox:b1
11
7,650,585
T
C
false
tss_proximal
374
rs11041496
0.00006
0.48905
90.654
intron_variant
intron_variant
ENSG00000166387
254
ENSG00000166387
163
163
ENSG00000166387
tss_proximal
ENSG00000166387
1,129
ENSG00000166387
163
163
ENSG00000166387
tss_proximal
tss_prox:b2
tss_prox:b1
11
7,652,704
A
G
false
tss_proximal
379
rs76392661
0.000038
0.001332
63.638
intron_variant
dELS_flank
ENSG00000166387
319
ENSG00000166387
319
319
ENSG00000166387
tss_proximal
ENSG00000166387
988
ENSG00000166387
1,954
988
ENSG00000166387
tss_proximal
tss_prox:b1
tss_prox:b1