rs9297647

Homo sapiens
A>G
LOC105375732 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0428 (12814/29902,GnomAD)
G=0467 (13616/29118,TOPMED)
G=0345 (1727/5008,1000G)
G=0399 (1536/3854,ALSPAC)
G=0406 (1504/3708,TWINSUK)
chr8:121671200 (GRCh38.p7) (8q24.13)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.121671200A>G
GRCh37.p13 chr 8NC_000008.10:g.122683440A>G

Gene: LOC105375732, uncharacterized LOC105375732(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375732 transcript variant X1XR_928597.2:n.N/AIntron Variant
LOC105375732 transcript variant X2XR_928598.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.415G=0.585
1000GenomesAmericanSub694A=0.640G=0.360
1000GenomesEast AsianSub1008A=0.859G=0.141
1000GenomesEuropeSub1006A=0.633G=0.367
1000GenomesGlobalStudy-wide5008A=0.655G=0.345
1000GenomesSouth AsianSub978A=0.800G=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.601G=0.399
The Genome Aggregation DatabaseAfricanSub8702A=0.452G=0.548
The Genome Aggregation DatabaseAmericanSub834A=0.620G=0.380
The Genome Aggregation DatabaseEast AsianSub1620A=0.860G=0.140
The Genome Aggregation DatabaseEuropeSub18444A=0.600G=0.399
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.571G=0.428
The Genome Aggregation DatabaseOtherSub302A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.532G=0.467
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.594G=0.406
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs92976470.000938alcohol dependence21314694

eQTL of rs9297647 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 rs9297647 in Fetal Brain

Probe ID Position Gene beta p-value
cg21781600chr8:122651575HAS2AS|HAS20.01696422826330178.3654e-10

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 )
chr8122638154122639727E068-43713
chr8122681364122681444E068-1996
chr8122640008122640255E069-43185
chr8122640265122640379E069-43061
chr8122640401122640467E069-42973
chr8122640476122640560E069-42880
chr8122640653122640777E069-42663
chr8122640815122640925E069-42515
chr8122640950122641165E069-42275
chr8122638154122639727E071-43713
chr8122639753122639803E071-43637
chr8122640008122640255E071-43185
chr8122640265122640379E071-43061
chr8122640401122640467E071-42973
chr8122640476122640560E071-42880
chr8122640653122640777E071-42663
chr8122640815122640925E071-42515
chr8122640950122641165E071-42275
chr8122681364122681444E071-1996
chr8122681468122682247E071-1193
chr8122640008122640255E072-43185
chr8122640265122640379E072-43061
chr8122640401122640467E072-42973
chr8122640476122640560E072-42880
chr8122640653122640777E072-42663
chr8122640815122640925E072-42515
chr8122640950122641165E072-42275
chr8122643743122644542E072-38898
chr8122681468122682247E072-1193
chr8122638154122639727E074-43713
chr8122639753122639803E074-43637
chr8122640008122640255E074-43185
chr8122640265122640379E074-43061
chr8122640401122640467E074-42973
chr8122640476122640560E074-42880
chr8122640653122640777E074-42663
chr8122640815122640925E074-42515
chr8122640950122641165E074-42275
chr8122641386122641483E074-41957
chr8122643029122643144E074-40296
chr8122643170122643292E074-40148
chr8122643363122643521E074-39919
chr8122643576122643626E074-39814





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8122650933122653369E067-30071
chr8122653454122655319E067-28121
chr8122650933122653369E068-30071
chr8122653454122655319E068-28121
chr8122650933122653369E069-30071
chr8122653454122655319E069-28121
chr8122650933122653369E071-30071
chr8122653454122655319E071-28121
chr8122650933122653369E072-30071
chr8122653454122655319E072-28121
chr8122650933122653369E074-30071
chr8122653454122655319E074-28121