rs4865676

Homo sapiens
A>C / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
A==0392 (11738/29882,GnomAD)
A==0422 (12309/29118,TOPMED)
A==0412 (2064/5008,1000G)
chr5:50279343 (GRCh38.p7) (5q11.1)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.50279343A>C
GRCh38.p7 chr 5NC_000005.10:g.50279343A>T
GRCh37.p13 chr 5NC_000005.9:g.49575177A>C
GRCh37.p13 chr 5NC_000005.9:g.49575177A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.510C=0.490
1000GenomesAmericanSub694A=0.330C=0.670
1000GenomesEast AsianSub1008A=0.474C=0.526
1000GenomesEuropeSub1006A=0.332C=0.668
1000GenomesGlobalStudy-wide5008A=0.412C=0.588
1000GenomesSouth AsianSub978A=0.360C=0.640
The Genome Aggregation DatabaseAfricanSub8700A=0.522C=0.478
The Genome Aggregation DatabaseAmericanSub834A=0.340C=0.66,
The Genome Aggregation DatabaseEast AsianSub1614A=0.513C=0.487
The Genome Aggregation DatabaseEuropeSub18432A=0.325C=0.674
The Genome Aggregation DatabaseGlobalStudy-wide29882A=0.392C=0.607
The Genome Aggregation DatabaseOtherSub302A=0.320C=0.68,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.422C=0.577
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20150382Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas.Qu HQNeuro Oncol

P-Value

SNP ID p-value Traits Study
rs48656760.0000906alcoholismpha002891
rs48656760.0000906alcohol dependence20201924

eQTL of rs4865676 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 rs4865676 in Fetal Brain

Probe ID Position Gene beta p-value
cg15950743chr5:49708521EMB-0.0885436949123171.5398e-35

Genomic View

Chromatin Interaction

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

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr54973639049737792E067-2116
chr54973639049737792E068-2116
chr54973639049737792E069-2116
chr54973585349736086E071-3822
chr54973612149736295E071-3613
chr54973639049737792E071-2116
chr54973585349736086E072-3822
chr54973612149736295E072-3613
chr54973639049737792E072-2116
chr54973639049737792E073-2116
chr54973639049737792E082-2116