rs2544689

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0177 (5309/29932,GnomAD)
C==0134 (3913/29118,TOPMED)
C==0090 (453/5008,1000G)
C==0214 (824/3854,ALSPAC)
C==0225 (833/3708,TWINSUK)
chr5:87078941 (GRCh38.p7) (5q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.87078941C>T
GRCh37.p13 chr 5NC_000005.9:g.86374758C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.048T=0.952
1000GenomesAmericanSub694C=0.090T=0.910
1000GenomesEast AsianSub1008C=0.003T=0.997
1000GenomesEuropeSub1006C=0.222T=0.778
1000GenomesGlobalStudy-wide5008C=0.090T=0.910
1000GenomesSouth AsianSub978C=0.100T=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.214T=0.786
The Genome Aggregation DatabaseAfricanSub8722C=0.058T=0.942
The Genome Aggregation DatabaseAmericanSub838C=0.140T=0.860
The Genome Aggregation DatabaseEast AsianSub1620C=0.002T=0.998
The Genome Aggregation DatabaseEuropeSub18450C=0.249T=0.750
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.177T=0.822
The Genome Aggregation DatabaseOtherSub302C=0.290T=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.134T=0.865
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.225T=0.775
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs25446896.3E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2544689 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 rs2544689 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 )
chr58637691686377244E0712158
chr58641606986417749E07141311
chr58641904586419098E07144287
chr58641917486419235E07144416
chr58641606986417749E07241311
chr58641606986417749E07441311