rs10847282

Homo sapiens
C>T
LOC107984450 : Non Coding Transcript Variant
LOC107984449 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0105 (3167/29922,GnomAD)
T=0091 (2667/29118,TOPMED)
T=0155 (775/5008,1000G)
T=0124 (478/3854,ALSPAC)
T=0134 (498/3708,TWINSUK)
chr12:127145439 (GRCh38.p7) (12q24.32)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.127145439C>T
GRCh37.p13 chr 12NC_000012.11:g.127629984C>T

Gene: LOC107984449, uncharacterized LOC107984449(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984449 transcript variant X1XM_017020296.1:c.N/AIntron Variant
LOC107984449 transcript variant X2XR_001749388.1:n.N/AIntron Variant

Gene: LOC107984450, uncharacterized LOC107984450(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984450 transcriptXR_001749390.1:n....XR_001749390.1:n.538G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.981T=0.019
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.697T=0.303
1000GenomesEuropeSub1006C=0.859T=0.141
1000GenomesGlobalStudy-wide5008C=0.845T=0.155
1000GenomesSouth AsianSub978C=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.876T=0.124
The Genome Aggregation DatabaseAfricanSub8716C=0.968T=0.032
The Genome Aggregation DatabaseAmericanSub836C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1616C=0.740T=0.260
The Genome Aggregation DatabaseEuropeSub18452C=0.872T=0.127
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.894T=0.105
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.908T=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.866T=0.134
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
rs108472820.0000139alcoholismpha002892
rs108472820.000014alcohol dependence(early age of onset)20201924
rs108472820.00097alcohol dependence20201924

eQTL of rs10847282 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 rs10847282 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 )
chr12127613063127613123E070-16861
chr12127613205127613263E070-16721
chr12127613312127613486E070-16498
chr12127629202127629252E070-732
chr12127629344127629394E070-590
chr12127613205127613263E072-16721
chr12127613312127613486E072-16498
chr12127659613127659817E08229629



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12127629892127630046E0670
chr12127630152127631376E067168
chr12127630152127631376E068168
chr12127630152127631376E069168
chr12127629892127630046E0700
chr12127630152127631376E070168
chr12127630152127631376E071168
chr12127650433127651223E07120449
chr12127629892127630046E0720
chr12127630152127631376E072168
chr12127629892127630046E0730
chr12127630152127631376E073168
chr12127650433127651223E07320449
chr12127630152127631376E074168
chr12127629892127630046E0810
chr12127629892127630046E0820
chr12127630152127631376E082168