rs1571045

Homo sapiens
C>T
ETV3L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0128 (3852/29960,GnomAD)
C==0142 (4159/29118,TOPMED)
C==0184 (923/5008,1000G)
C==0063 (243/3854,ALSPAC)
C==0059 (217/3708,TWINSUK)
chr1:157096337 (GRCh38.p7) (1q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.157096337C>T
GRCh37.p13 chr 1NC_000001.10:g.157066129C>T

Gene: ETV3L, ETS variant 3 like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ETV3L transcriptNM_001004341.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.238T=0.762
1000GenomesAmericanSub694C=0.160T=0.840
1000GenomesEast AsianSub1008C=0.276T=0.724
1000GenomesEuropeSub1006C=0.068T=0.932
1000GenomesGlobalStudy-wide5008C=0.184T=0.816
1000GenomesSouth AsianSub978C=0.150T=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.063T=0.937
The Genome Aggregation DatabaseAfricanSub8708C=0.222T=0.778
The Genome Aggregation DatabaseAmericanSub838C=0.180T=0.820
The Genome Aggregation DatabaseEast AsianSub1620C=0.281T=0.719
The Genome Aggregation DatabaseEuropeSub18492C=0.069T=0.930
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.128T=0.871
The Genome Aggregation DatabaseOtherSub302C=0.080T=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.142T=0.857
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.059T=0.941
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs15710450.00011alcohol dependence20201924

eQTL of rs1571045 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 rs1571045 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 )
chr1157105445157105743E06739316
chr1157105798157105940E06739669
chr1157105960157106179E06739831
chr1157106282157106444E06740153
chr1157106513157106600E06740384
chr1157105179157105273E06839050
chr1157105445157105743E06839316
chr1157105798157105940E06839669
chr1157105960157106179E06839831
chr1157106282157106444E06840153
chr1157106513157106600E06840384
chr1157059687157059816E069-6313
chr1157059853157060623E069-5506
chr1157075886157076289E0699757
chr1157076815157076914E06910686
chr1157079841157080004E06913712
chr1157105798157105940E06939669
chr1157105960157106179E06939831
chr1157106282157106444E06940153
chr1157106513157106600E06940384
chr1157043884157044319E070-21810
chr1157051620157051793E070-14336
chr1157051620157051793E071-14336
chr1157079841157080004E07113712
chr1157082888157083017E07116759
chr1157083166157083270E07117037
chr1157105445157105743E07139316
chr1157105798157105940E07139669
chr1157105960157106179E07139831
chr1157106282157106444E07140153
chr1157106513157106600E07140384
chr1157043884157044319E072-21810
chr1157044384157044464E072-21665
chr1157059687157059816E072-6313
chr1157059853157060623E072-5506
chr1157105179157105273E07239050
chr1157105445157105743E07239316
chr1157105798157105940E07239669
chr1157105960157106179E07239831
chr1157106282157106444E07240153
chr1157106513157106600E07240384
chr1157043884157044319E073-21810
chr1157044384157044464E073-21665
chr1157105445157105743E07339316
chr1157105798157105940E07339669
chr1157105960157106179E07339831
chr1157106282157106444E07340153
chr1157106513157106600E07340384
chr1157059687157059816E074-6313
chr1157059853157060623E074-5506
chr1157105798157105940E07439669
chr1157105960157106179E07439831
chr1157106282157106444E07440153
chr1157106513157106600E07440384
chr1157062672157062768E081-3361
chr1157105960157106179E08139831
chr1157106282157106444E08140153
chr1157106513157106600E08140384
chr1157106282157106444E08240153
chr1157106513157106600E08240384










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1157016615157016740E067-49389
chr1157106861157109386E06740732
chr1157106861157109386E06840732
chr1157106861157109386E06940732
chr1157106861157109386E07040732
chr1157106861157109386E07140732
chr1157106861157109386E07240732
chr1157106861157109386E07340732
chr1157106861157109386E07440732
chr1157106861157109386E08140732
chr1157106861157109386E08240732