rs205534

Homo sapiens
A>G
ETV6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0495 (14811/29880,GnomAD)
G=0480 (13980/29118,TOPMED)
G=0422 (2113/5008,1000G)
A==0482 (1857/3854,ALSPAC)
G=0496 (1841/3708,TWINSUK)
chr12:11688183 (GRCh38.p7) (12p13.2)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.11688183A>G
GRCh37.p13 chr 12NC_000012.11:g.11841117A>G
ETV6 RefSeqGene LRG_609

Gene: ETV6, ETS variant 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ETV6 transcriptNM_001987.4:c.N/AIntron Variant
ETV6 transcript variant X1XM_011520607.2:c.N/AIntron Variant
ETV6 transcript variant X6XM_011520611.2:c.N/AIntron Variant
ETV6 transcript variant X3XM_017018990.1:c.N/AIntron Variant
ETV6 transcript variant X4XM_017018991.1:c.N/AIntron Variant
ETV6 transcript variant X2XM_011520608.2:c.N/AGenic Upstream Transcript Variant
ETV6 transcript variant X5XM_011520609.2:c.N/AGenic Upstream Transcript Variant
ETV6 transcript variant X7XM_011520612.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.543G=0.457
1000GenomesAmericanSub694A=0.450G=0.550
1000GenomesEast AsianSub1008A=0.743G=0.257
1000GenomesEuropeSub1006A=0.463G=0.537
1000GenomesGlobalStudy-wide5008A=0.578G=0.422
1000GenomesSouth AsianSub978A=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.482G=0.518
The Genome Aggregation DatabaseAfricanSub8694A=0.555G=0.445
The Genome Aggregation DatabaseAmericanSub832A=0.410G=0.590
The Genome Aggregation DatabaseEast AsianSub1608A=0.739G=0.261
The Genome Aggregation DatabaseEuropeSub18444A=0.463G=0.536
The Genome Aggregation DatabaseGlobalStudy-wide29880A=0.504G=0.495
The Genome Aggregation DatabaseOtherSub302A=0.520G=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.519G=0.480
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.504G=0.496
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23620759Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.Markunas CAPLoS One

P-Value

SNP ID p-value Traits Study
rs2055340.00059alcohol dependence20201924

eQTL of rs205534 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs205534 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr121181145811811498E067-29619
chr121181150211811570E067-29547
chr121181170811812222E067-28895
chr121181230911812424E067-28693
chr121181614611816366E067-24751
chr121181653011816614E067-24503
chr121182513011825558E067-15559
chr121182562211826297E067-14820
chr121182653311826583E067-14534
chr121182658611826653E067-14464
chr121182665511826874E067-14243
chr121182905211829175E067-11942
chr121182919711829268E067-11849
chr121182934411829511E067-11606
chr121182957511829615E067-11502
chr121182961811829668E067-11449
chr121182993811829988E067-11129
chr121183006311830421E067-10696
chr121183054811830606E067-10511
chr121183070711831041E067-10076
chr121183221911832384E067-8733
chr121184628211846438E0675165
chr121184662211846784E0675505
chr121184684711846898E0675730
chr121184690511846981E0675788
chr121185942511859493E06718308
chr121185951311860888E06718396
chr121186939811871000E06728281
chr121187159611873312E06730479
chr121187679611877556E06735679
chr121187973711880655E06738620
chr121188379411884236E06742677
chr121188425911884829E06743142
chr121188490011885161E06743783
chr121180729411807618E068-33499
chr121180864711808700E068-32417
chr121180874111809492E068-31625
chr121181170811812222E068-28895
chr121181230911812424E068-28693
chr121181445811816134E068-24983
chr121181614611816366E068-24751
chr121181653011816614E068-24503
chr121182513011825558E068-15559
chr121182562211826297E068-14820
chr121182653311826583E068-14534
chr121182658611826653E068-14464
chr121182665511826874E068-14243
chr121182704911827294E068-13823
chr121182734311827881E068-13236
chr121185409111854299E06812974
chr121185432111855039E06813204
chr121185504711855125E06813930
chr121185515011855217E06814033
chr121185793111858434E06816814
chr121185857211858670E06817455
chr121185873211858801E06817615
chr121185883011858995E06817713
chr121185899911859400E06817882
chr121185942511859493E06818308
chr121185951311860888E06818396
chr121186420311864275E06823086
chr121186432211864376E06823205
chr121186437911864523E06823262
chr121186455511864945E06823438
chr121186939811871000E06828281
chr121187113211871322E06830015
chr121187159611873312E06830479
chr121187679611877556E06835679
chr121187973711880655E06838620
chr121188379411884236E06842677
chr121181170811812222E069-28895
chr121181230911812424E069-28693
chr121181614611816366E069-24751
chr121181653011816614E069-24503
chr121182513011825558E069-15559
chr121182704911827294E069-13823
chr121182734311827881E069-13236
chr121182905211829175E069-11942
chr121182919711829268E069-11849
chr121182934411829511E069-11606
chr121183070711831041E069-10076
chr121183109211831175E069-9942
chr121184821711848870E0697100
chr121184890711848951E0697790
chr121185899911859400E06917882
chr121185942511859493E06918308
chr121185951311860888E06918396
chr121186420311864275E06923086
chr121186432211864376E06923205
chr121186437911864523E06923262
chr121186455511864945E06923438
chr121186939811871000E06928281
chr121187159611873312E06930479
chr121181047211810958E070-30159
chr121181145811811498E070-29619
chr121181150211811570E070-29547
chr121181170811812222E070-28895
chr121185857211858670E07017455
chr121180729411807618E071-33499
chr121180808511808271E071-32846
chr121180849511808546E071-32571
chr121180864711808700E071-32417
chr121180874111809492E071-31625
chr121181033911810421E071-30696
chr121181047211810958E071-30159
chr121181145811811498E071-29619
chr121181150211811570E071-29547
chr121181170811812222E071-28895
chr121181230911812424E071-28693
chr121181265311812797E071-28320
chr121181614611816366E071-24751
chr121181653011816614E071-24503
chr121181907211819431E071-21686
chr121181951411819833E071-21284
chr121182130911821457E071-19660
chr121182147211821997E071-19120
chr121182201511822272E071-18845
chr121182279211822878E071-18239
chr121182473711824824E071-16293
chr121182492911825025E071-16092
chr121182513011825558E071-15559
chr121182562211826297E071-14820
chr121182653311826583E071-14534
chr121182658611826653E071-14464
chr121182665511826874E071-14243
chr121182704911827294E071-13823
chr121182734311827881E071-13236
chr121182791211828529E071-12588
chr121182864711828762E071-12355
chr121182905211829175E071-11942
chr121182919711829268E071-11849
chr121182934411829511E071-11606
chr121182957511829615E071-11502
chr121182961811829668E071-11449
chr121182993811829988E071-11129
chr121183006311830421E071-10696
chr121183054811830606E071-10511
chr121183070711831041E071-10076
chr121183109211831175E071-9942
chr121185432111855039E07113204
chr121185504711855125E07113930
chr121185515011855217E07114033
chr121185793111858434E07116814
chr121185857211858670E07117455
chr121185873211858801E07117615
chr121185883011858995E07117713
chr121185899911859400E07117882
chr121185942511859493E07118308
chr121185951311860888E07118396
chr121186123311861338E07120116
chr121186388011864129E07122763
chr121186420311864275E07123086
chr121186432211864376E07123205
chr121186437911864523E07123262
chr121186455511864945E07123438
chr121186939811871000E07128281
chr121187113211871322E07130015
chr121187159611873312E07130479
chr121187679611877556E07135679
chr121187973711880655E07138620
chr121181145811811498E072-29619
chr121181150211811570E072-29547
chr121181170811812222E072-28895
chr121181230911812424E072-28693
chr121181445811816134E072-24983
chr121181614611816366E072-24751
chr121181653011816614E072-24503
chr121182513011825558E072-15559
chr121182704911827294E072-13823
chr121183070711831041E072-10076
chr121183109211831175E072-9942
chr121184628211846438E0725165
chr121184662211846784E0725505
chr121184684711846898E0725730
chr121184690511846981E0725788
chr121185432111855039E07213204
chr121185504711855125E07213930
chr121185515011855217E07214033
chr121185951311860888E07218396
chr121186420311864275E07223086
chr121186432211864376E07223205
chr121186437911864523E07223262
chr121186455511864945E07223438
chr121187113211871322E07230015
chr121187159611873312E07230479
chr121187973711880655E07238620
chr121188379411884236E07242677
chr121188548411885538E07244367
chr121180808511808271E073-32846
chr121181047211810958E073-30159
chr121181145811811498E073-29619
chr121181150211811570E073-29547
chr121181170811812222E073-28895
chr121181445811816134E073-24983
chr121181614611816366E073-24751
chr121181653011816614E073-24503
chr121181664311817419E073-23698
chr121182147211821997E073-19120
chr121182513011825558E073-15559
chr121182562211826297E073-14820
chr121182653311826583E073-14534
chr121182658611826653E073-14464
chr121182665511826874E073-14243
chr121182704911827294E073-13823
chr121182919711829268E073-11849
chr121182934411829511E073-11606
chr121182957511829615E073-11502
chr121182961811829668E073-11449
chr121183070711831041E073-10076
chr121183109211831175E073-9942
chr121183352311833660E073-7457
chr121183783811837888E073-3229
chr121183793611838092E073-3025
chr121184130411841421E073187
chr121184148011841647E073363
chr121184628211846438E0735165
chr121184662211846784E0735505
chr121184684711846898E0735730
chr121184690511846981E0735788
chr121185409111854299E07312974
chr121185432111855039E07313204
chr121185899911859400E07317882
chr121185942511859493E07318308
chr121185951311860888E07318396
chr121186388011864129E07322763
chr121186420311864275E07323086
chr121186432211864376E07323205
chr121186437911864523E07323262
chr121186455511864945E07323438
chr121186939811871000E07328281
chr121187159611873312E07330479
chr121180729411807618E074-33499
chr121180768811807738E074-33379
chr121180849511808546E074-32571
chr121180864711808700E074-32417
chr121181145811811498E074-29619
chr121181150211811570E074-29547
chr121181170811812222E074-28895
chr121181445811816134E074-24983
chr121181614611816366E074-24751
chr121181653011816614E074-24503
chr121181664311817419E074-23698
chr121182147211821997E074-19120
chr121182473711824824E074-16293
chr121182492911825025E074-16092
chr121182513011825558E074-15559
chr121182562211826297E074-14820
chr121182653311826583E074-14534
chr121182658611826653E074-14464
chr121182665511826874E074-14243
chr121182704911827294E074-13823
chr121182734311827881E074-13236
chr121183006311830421E074-10696
chr121183054811830606E074-10511
chr121183070711831041E074-10076
chr121183905611839411E074-1706
chr121184628211846438E0745165
chr121184662211846784E0745505
chr121184684711846898E0745730
chr121184690511846981E0745788
chr121184821711848870E0747100
chr121184890711848951E0747790
chr121184906511849452E0747948
chr121185385911853992E07412742
chr121185432111855039E07413204
chr121185504711855125E07413930
chr121185515011855217E07414033
chr121185899911859400E07417882
chr121185942511859493E07418308
chr121185951311860888E07418396
chr121186388011864129E07422763
chr121186420311864275E07423086
chr121186432211864376E07423205
chr121186437911864523E07423262
chr121186455511864945E07423438
chr121186939811871000E07428281
chr121187113211871322E07430015
chr121187159611873312E07430479
chr121187679611877556E07435679
chr121188379411884236E07442677
chr121188490011885161E07443783
chr121180097111801282E081-39835
chr121182492911825025E081-16092
chr121182513011825558E081-15559
chr121182562211826297E081-14820
chr121182704911827294E081-13823
chr121182734311827881E081-13236
chr121182905211829175E081-11942
chr121182919711829268E081-11849
chr121182934411829511E081-11606
chr121182957511829615E081-11502
chr121182961811829668E081-11449
chr121182993811829988E081-11129
chr121183006311830421E081-10696
chr121183054811830606E081-10511
chr121183070711831041E081-10076
chr121183109211831175E081-9942
chr121183127211831352E081-9765
chr121187113211871322E08130015
chr121182492911825025E082-16092
chr121182513011825558E082-15559
chr121182562211826297E082-14820
chr121183006311830421E082-10696
chr121183054811830606E082-10511
chr121183070711831041E082-10076










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr121180138511801435E067-39682
chr121180147511806722E067-34395
chr121180138511801435E068-39682
chr121180147511806722E068-34395
chr121180138511801435E069-39682
chr121180147511806722E069-34395
chr121180138511801435E070-39682
chr121180147511806722E070-34395
chr121180138511801435E071-39682
chr121180147511806722E071-34395
chr121180138511801435E072-39682
chr121180147511806722E072-34395
chr121180147511806722E073-34395
chr121180147511806722E074-34395
chr121180138511801435E081-39682
chr121180147511806722E081-34395
chr121180138511801435E082-39682
chr121180147511806722E082-34395