rs11865197

Homo sapiens
T>C
LOC105371308 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0402 (12025/29884,GnomAD)
C=0392 (11430/29118,TOPMED)
C=0435 (2177/5008,1000G)
C=0436 (1682/3854,ALSPAC)
C=0412 (1527/3708,TWINSUK)
chr16:63554638 (GRCh38.p7) (16q21)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.63554638T>C
GRCh37.p13 chr 16NC_000016.9:g.63588542T>C

Gene: LOC105371308, uncharacterized LOC105371308(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371308 transcriptXR_001752232.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.731C=0.269
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.543C=0.457
1000GenomesEuropeSub1006T=0.572C=0.428
1000GenomesGlobalStudy-wide5008T=0.565C=0.435
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.564C=0.436
The Genome Aggregation DatabaseAfricanSub8704T=0.700C=0.300
The Genome Aggregation DatabaseAmericanSub834T=0.430C=0.570
The Genome Aggregation DatabaseEast AsianSub1610T=0.558C=0.442
The Genome Aggregation DatabaseEuropeSub18436T=0.559C=0.440
The Genome Aggregation DatabaseGlobalStudy-wide29884T=0.597C=0.402
The Genome Aggregation DatabaseOtherSub300T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.607C=0.392
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.588C=0.412
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs118651970.00034alcohol dependence(early age of onset)20201924
rs118651970.00088alcohol dependence20201924

eQTL of rs11865197 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 rs11865197 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 )
chr166357185663571936E081-16606
chr166357195063572000E081-16542
chr166357219463572244E081-16298
chr166355033063550754E082-37788