rs6931825

Homo sapiens
A>C
PHACTR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0130 (3892/29936,GnomAD)
C=0138 (4044/29118,TOPMED)
C=0124 (619/5008,1000G)
C=0122 (470/3854,ALSPAC)
C=0124 (460/3708,TWINSUK)
chr6:143758651 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.143758651A>C
GRCh37.p13 chr 6NC_000006.11:g.144079788A>C

Gene: PHACTR2, phosphatase and actin regulator 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PHACTR2 transcript variant 1NM_001100164.1:c.N/AIntron Variant
PHACTR2 transcript variant 2NM_001100165.1:c.N/AIntron Variant
PHACTR2 transcript variant 4NM_001100166.1:c.N/AIntron Variant
PHACTR2 transcript variant 3NM_014721.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.822C=0.178
1000GenomesAmericanSub694A=0.920C=0.080
1000GenomesEast AsianSub1008A=0.931C=0.069
1000GenomesEuropeSub1006A=0.900C=0.100
1000GenomesGlobalStudy-wide5008A=0.876C=0.124
1000GenomesSouth AsianSub978A=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.878C=0.122
The Genome Aggregation DatabaseAfricanSub8716A=0.837C=0.163
The Genome Aggregation DatabaseAmericanSub838A=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1618A=0.920C=0.080
The Genome Aggregation DatabaseEuropeSub18462A=0.879C=0.120
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.870C=0.130
The Genome Aggregation DatabaseOtherSub302A=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.861C=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.876C=0.124
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs69318250.000331alcohol dependence24277619

eQTL of rs6931825 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 rs6931825 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 )
chr6144063789144063933E067-15855
chr6144064073144068413E067-11375
chr6144094612144095973E06814824
chr6144064073144068413E069-11375
chr6144093116144093166E06913328
chr6144096127144096226E06916339
chr6144096312144096775E06916524
chr6144064073144068413E070-11375
chr6144055778144056096E071-23692
chr6144063789144063933E071-15855
chr6144063943144064021E071-15767
chr6144125484144125608E07145696
chr6144125657144125707E07145869
chr6144064073144068413E072-11375
chr6144055778144056096E073-23692
chr6144056130144056200E073-23588
chr6144063943144064021E073-15767
chr6144096025144096076E07316237
chr6144096127144096226E07316339
chr6144063943144064021E074-15767
chr6144064073144068413E074-11375