rs960710

Homo sapiens
G>A
PHACTR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0172 (5164/29912,GnomAD)
A=0181 (5275/29118,TOPMED)
A=0171 (858/5008,1000G)
A=0171 (658/3854,ALSPAC)
A=0170 (632/3708,TWINSUK)
chr6:143739821 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.143739821G>A
GRCh37.p13 chr 6NC_000006.11:g.144060958G>A

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
1000GenomesAfricanSub1322G=0.803A=0.197
1000GenomesAmericanSub694G=0.890A=0.110
1000GenomesEast AsianSub1008G=0.931A=0.069
1000GenomesEuropeSub1006G=0.852A=0.148
1000GenomesGlobalStudy-wide5008G=0.829A=0.171
1000GenomesSouth AsianSub978G=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.829A=0.171
The Genome Aggregation DatabaseAfricanSub8698G=0.794A=0.206
The Genome Aggregation DatabaseAmericanSub838G=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1618G=0.922A=0.078
The Genome Aggregation DatabaseEuropeSub18456G=0.830A=0.169
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.827A=0.172
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.818A=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.830A=0.170
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs9607100.000196alcohol consumption23743675

eQTL of rs960710 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 rs960710 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 )
chr6144016216144017164E067-43794
chr6144017201144017379E067-43579
chr6144017471144017575E067-43383
chr6144063789144063933E0672831
chr6144064073144068413E0673115
chr6144094612144095973E06833654
chr6144064073144068413E0693115
chr6144093116144093166E06932158
chr6144096127144096226E06935169
chr6144096312144096775E06935354
chr6144064073144068413E0703115
chr6144012744144013387E071-47571
chr6144016216144017164E071-43794
chr6144055778144056096E071-4862
chr6144063789144063933E0712831
chr6144063943144064021E0712985
chr6144064073144068413E0723115
chr6144055778144056096E073-4862
chr6144056130144056200E073-4758
chr6144063943144064021E0732985
chr6144096025144096076E07335067
chr6144096127144096226E07335169
chr6144021761144023335E074-37623
chr6144063943144064021E0742985
chr6144064073144068413E0743115