rs1372325

Homo sapiens
T>C
ACTA2-AS1 : Non Coding Transcript Variant
LOC105379869 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0139 (4157/29904,GnomAD)
T==0101 (2954/29118,TOPMED)
T==0085 (426/5008,1000G)
T==0181 (699/3854,ALSPAC)
T==0185 (685/3708,TWINSUK)
chr10:88933812 (GRCh38.p7) (10q23.31)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.88933812T>C
GRCh37.p13 chr 10NC_000010.10:g.90693569T>C
ACTA2 RefSeqGene LRG_781

Gene: ACTA2-AS1, ACTA2 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ACTA2-AS1 transcriptNR_125373.1:n.448T>CT>CNon Coding Transcript Variant

Gene: LOC105379869, uncharacterized LOC105379869(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105379869 transcriptXR_001747538.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.008C=0.992
1000GenomesAmericanSub694T=0.100C=0.900
1000GenomesEast AsianSub1008T=0.039C=0.961
1000GenomesEuropeSub1006T=0.196C=0.804
1000GenomesGlobalStudy-wide5008T=0.085C=0.915
1000GenomesSouth AsianSub978T=0.110C=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.181C=0.819
The Genome Aggregation DatabaseAfricanSub8716T=0.037C=0.963
The Genome Aggregation DatabaseAmericanSub838T=0.110C=0.890
The Genome Aggregation DatabaseEast AsianSub1612T=0.027C=0.973
The Genome Aggregation DatabaseEuropeSub18436T=0.198C=0.801
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.139C=0.861
The Genome Aggregation DatabaseOtherSub302T=0.160C=0.840
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.101C=0.898
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.185C=0.815
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs13723257.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1372325 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 rs1372325 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 )
chr109065862390658876E067-34693
chr109065898190659097E067-34472
chr109065970990659759E067-33810
chr109065982290659886E067-33683
chr109065991590659965E067-33604
chr109066040490660482E067-33087
chr109066052290660576E067-32993
chr109066058290660658E067-32911
chr109066067290660740E067-32829
chr109068557290685612E067-7957
chr109068566690685727E067-7842
chr109068575890685802E067-7767
chr109068588990687337E067-6232
chr109069444290695843E067873
chr109065596090657758E068-35811
chr109068588990687337E068-6232
chr109069212590693195E068-374
chr109074230390742384E06848734
chr109074242390742791E06848854
chr109068588990687337E069-6232
chr109069212590693195E069-374
chr109074242390742791E06948854
chr109071225490713045E07018685
chr109071304790713112E07019478
chr109071317590713248E07019606
chr109065596090657758E071-35811
chr109065862390658876E071-34693
chr109065898190659097E071-34472
chr109065970990659759E071-33810
chr109068588990687337E071-6232
chr109073819890738317E07144629
chr109073834490738452E07144775
chr109073881090739486E07145241
chr109073950190739599E07145932
chr109074230390742384E07148734
chr109074242390742791E07148854
chr109068484090684921E072-8648
chr109069444290695843E072873
chr109064639690646800E073-46769
chr109065596090657758E073-35811
chr109068575890685802E073-7767
chr109068588990687337E073-6232
chr109069212590693195E073-374
chr109073950190739599E07345932
chr109065259790652725E074-40844
chr109068575890685802E074-7767
chr109068588990687337E074-6232
chr109069444290695843E074873
chr109069444290695843E081873
chr109071225490713045E08118685
chr109073195090732048E08138381









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr109073423090735556E06740661
chr109073423090735556E06840661
chr109073423090735556E06940661
chr109071079390712225E07117224
chr109073423090735556E07140661
chr109073423090735556E07240661
chr109071079390712225E07317224
chr109073423090735556E07340661
chr109073423090735556E07440661