rs1487814

Homo sapiens
T>C
LOC102723370 : Intron Variant
LOC105376587 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0476 (14245/29908,GnomAD)
C=0466 (13580/29118,TOPMED)
T==0490 (2452/5008,1000G)
C=0466 (1797/3854,ALSPAC)
C=0493 (1827/3708,TWINSUK)
chr11:21928939 (GRCh38.p7) (11p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.21928939T>C
GRCh37.p13 chr 11NC_000011.9:g.21950485T>C

Gene: LOC102723370, uncharacterized LOC102723370(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102723370 transcript variant X1XR_001748151.1:n.N/AIntron Variant
LOC102723370 transcript variant X2XR_001748152.1:n.N/AIntron Variant
LOC102723370 transcript variant X5XR_001748153.1:n.N/AIntron Variant
LOC102723370 transcript variant X3XR_931110.2:n.N/AIntron Variant
LOC102723370 transcript variant X4XR_931111.2:n.N/AIntron Variant
LOC102723370 transcript variant X7XR_931115.2:n.N/AGenic Upstream Transcript Variant
LOC102723370 transcript variant X6XR_931109.2:n.N/AGenic Downstream Transcript Variant

Gene: LOC105376587, uncharacterized LOC105376587(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376587 transcriptXR_931117.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.502C=0.498
1000GenomesAmericanSub694T=0.480C=0.520
1000GenomesEast AsianSub1008T=0.348C=0.652
1000GenomesEuropeSub1006T=0.577C=0.423
1000GenomesGlobalStudy-wide5008T=0.490C=0.510
1000GenomesSouth AsianSub978T=0.540C=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.534C=0.466
The Genome Aggregation DatabaseAfricanSub8718T=0.522C=0.478
The Genome Aggregation DatabaseAmericanSub838T=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1596T=0.353C=0.647
The Genome Aggregation DatabaseEuropeSub18454T=0.539C=0.460
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.523C=0.476
The Genome Aggregation DatabaseOtherSub302T=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.533C=0.466
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.507C=0.493
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs14878148.04E-05alcohol dependence19581569

eQTL of rs1487814 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 rs1487814 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 )
chr112194557821945687E070-4798