rs11858860

Homo sapiens
T>C
AKAP13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0230 (1153/5008,1000G)
C=0133 (511/3854,ALSPAC)
C=0129 (478/3708,TWINSUK)
chr15:85408215 (GRCh38.p7) (15q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.85408215T>C
GRCh37.p13 chr 15NC_000015.9:g.85951446T>C

Gene: AKAP13, A-kinase anchoring protein 13(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKAP13 transcript variant 1NM_006738.5:c.N/AIntron Variant
AKAP13 transcript variant 2NM_007200.4:c.N/AIntron Variant
AKAP13 transcript variant 4NM_001270546.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.643C=0.357
1000GenomesAmericanSub694T=0.640C=0.360
1000GenomesEast AsianSub1008T=0.805C=0.195
1000GenomesEuropeSub1006T=0.881C=0.119
1000GenomesGlobalStudy-wide5008T=0.770C=0.230
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.867C=0.133
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.871C=0.129
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
rs118588600.000139alcohol dependence20201924

eQTL of rs11858860 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 rs11858860 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 )
chr158594440385945100E068-6346
chr158594514185946376E068-5070
chr158594700285949012E068-2434
chr158595085285951891E0680
chr158594904685949099E069-2347
chr158591463285914682E070-36764
chr158591474185914791E070-36655
chr158591587885915928E070-35518
chr158591693785916988E070-34458
chr158591809985918487E070-32959
chr158595601185958272E0704565
chr158596417985964750E07012733
chr158596486485965079E07013418
chr158596509885965317E07013652
chr158596537685965484E07013930
chr158594440385945100E071-6346
chr158594514185946376E071-5070
chr158594700285949012E071-2434
chr158594904685949099E071-2347
chr158594913885949214E071-2232
chr158594941785949531E071-1915
chr158595078285950848E071-598
chr158595085285951891E0710
chr158595601185958272E0714565
chr158594661785946709E073-4737
chr158594671585946784E073-4662
chr158594514185946376E074-5070
chr158594700285949012E074-2434
chr158595078285950848E074-598
chr158595085285951891E0740
chr158595601185958272E0744565
chr158596486485965079E08113418







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr158592269285925510E067-25936
chr158592269285925510E068-25936
chr158592269285925510E069-25936
chr158592269285925510E070-25936
chr158592269285925510E071-25936
chr158592269285925510E072-25936
chr158592269285925510E073-25936
chr158592269285925510E074-25936
chr158592269285925510E082-25936