rs3825694

Homo sapiens
T>C
AHSA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0103 (3075/29742,GnomAD)
C=0095 (2778/29118,TOPMED)
C=0153 (3338/21750,ExAC)
C=0101 (504/5008,1000G)
C=0133 (511/3854,ALSPAC)
C=0127 (471/3708,TWINSUK)
chr14:77468244 (GRCh38.p7) (14q24.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.77468244T>C
GRCh37.p13 chr 14NC_000014.8:g.77934587T>C

Gene: AHSA1, activator of Hsp90 ATPase activity 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AHSA1 transcript variant 2NM_001321441.1:c.N/AIntron Variant
AHSA1 transcript variant 1NM_012111.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.948C=0.052
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.976C=0.024
1000GenomesEuropeSub1006T=0.860C=0.140
1000GenomesGlobalStudy-wide5008T=0.899C=0.101
1000GenomesSouth AsianSub978T=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.867C=0.133
The Exome Aggregation ConsortiumAmericanSub3480T=0.922C=0.078
The Exome Aggregation ConsortiumAsianSub8268T=0.800C=0.200
The Exome Aggregation ConsortiumEuropeSub9792T=0.859C=0.141
The Exome Aggregation ConsortiumGlobalStudy-wide21750T=0.846C=0.153
The Exome Aggregation ConsortiumOtherSub210T=0.860C=0.140
The Genome Aggregation DatabaseAfricanSub8698T=0.932C=0.068
The Genome Aggregation DatabaseAmericanSub804T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1620T=0.978C=0.022
The Genome Aggregation DatabaseEuropeSub18320T=0.873C=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29742T=0.896C=0.103
The Genome Aggregation DatabaseOtherSub300T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.904C=0.095
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.873C=0.127
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs38256942.42E-05alcohol and nictotine co-dependence20158304

eQTL of rs3825694 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr14:77934587TMED8ENSG00000100580.7T>C1.0103e-591135Anterior_cingulate_cortex

meQTL of rs3825694 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 )
chr147792650477926554E067-8033
chr147792658577926664E067-7923
chr147792650477926554E068-8033
chr147792658577926664E068-7923
chr147792716877927218E068-7369
chr147792787477927967E068-6620
chr147792802277928062E068-6525
chr147796392977964009E06829342
chr147792617777926248E069-8339
chr147792635277926442E069-8145
chr147792650477926554E069-8033
chr147792658577926664E069-7923
chr147792787477927967E069-6620
chr147792802277928062E069-6525
chr147792650477926554E070-8033
chr147792658577926664E070-7923
chr147793873977938829E0704152
chr147793888377939009E0704296
chr147792617777926248E071-8339
chr147792635277926442E071-8145
chr147798445177984527E07149864
chr147792650477926554E072-8033
chr147792658577926664E072-7923
chr147792650477926554E073-8033
chr147792658577926664E073-7923
chr147792226977922333E074-12254
chr147792241577922455E074-12132
chr147792248477922565E074-12022
chr147792226977922333E082-12254
chr147792241577922455E082-12132
chr147792248477922565E082-12022









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr147792328077926098E067-8489
chr147796453177964727E06729944
chr147796478077965879E06730193
chr147792328077926098E068-8489
chr147796436377964522E06829776
chr147796453177964727E06829944
chr147796478077965879E06830193
chr147792328077926098E069-8489
chr147792328077926098E070-8489
chr147792328077926098E071-8489
chr147796478077965879E07130193
chr147792328077926098E072-8489
chr147796478077965879E07230193
chr147792328077926098E073-8489
chr147796436377964522E07329776
chr147796453177964727E07329944
chr147796478077965879E07330193
chr147792328077926098E074-8489
chr147796453177964727E07429944
chr147796478077965879E07430193
chr147792328077926098E081-8489
chr147792328077926098E082-8489
chr147796436377964522E08229776
chr147796453177964727E08229944
chr147796478077965879E08230193