rs2822586

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0232 (6966/29940,GnomAD)
C=0249 (7259/29118,TOPMED)
C=0258 (1291/5008,1000G)
C=0207 (797/3854,ALSPAC)
C=0211 (781/3708,TWINSUK)
chr21:14337696 (GRCh38.p7) (21q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.14337696T>C
GRCh37.p13 chr 21NC_000021.8:g.15710017T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.731C=0.269
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.697C=0.303
1000GenomesEuropeSub1006T=0.773C=0.227
1000GenomesGlobalStudy-wide5008T=0.742C=0.258
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.793C=0.207
The Genome Aggregation DatabaseAfricanSub8716T=0.731C=0.269
The Genome Aggregation DatabaseAmericanSub836T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1616T=0.676C=0.324
The Genome Aggregation DatabaseEuropeSub18470T=0.789C=0.210
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.767C=0.232
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.750C=0.249
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.789C=0.211
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
rs28225860.00068alcohol dependence20201924
rs28225860.0007Alcohol dependence (early age of onset)20201924

eQTL of rs2822586 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 rs2822586 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 )
chr211575326415753417E06943247
chr211575358415753659E06943567
chr211575326415753417E07143247
chr211575358415753659E07143567
chr211575326415753417E07243247
chr211575326415753417E07443247
chr211575358415753659E07443567




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr211575451715756862E06744500
chr211575451715756862E06844500
chr211575451715756862E06944500
chr211575451715756862E07044500
chr211575451715756862E07144500
chr211575451715756862E07244500
chr211575451715756862E07344500
chr211575451715756862E07444500
chr211575451715756862E08144500
chr211575451715756862E08244500