rs6748389

Homo sapiens
T>G
LOC150935 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0464 (13871/29880,GnomAD)
T==0497 (14486/29118,TOPMED)
G=0395 (1979/5008,1000G)
chr2:239763879 (GRCh38.p7) (2p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.239763879T>G
GRCh38.p7 chr 2 fix patch HG2233_PATCHNW_011332689.1:g.66976T>G
GRCh37.p13 chr 2NC_000002.11:g.240685573T>G

Gene: LOC150935, uncharacterized LOC150935(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC150935 transcriptNR_037808.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.434G=0.566
1000GenomesAmericanSub694T=0.610G=0.390
1000GenomesEast AsianSub1008T=0.864G=0.136
1000GenomesEuropeSub1006T=0.537G=0.463
1000GenomesGlobalStudy-wide5008T=0.605G=0.395
1000GenomesSouth AsianSub978T=0.640G=0.360
The Genome Aggregation DatabaseAfricanSub8690T=0.438G=0.562
The Genome Aggregation DatabaseAmericanSub836T=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1616T=0.863G=0.137
The Genome Aggregation DatabaseEuropeSub18436T=0.550G=0.449
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.535G=0.464
The Genome Aggregation DatabaseOtherSub302T=0.500G=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.497G=0.502
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
rs67483890.000264alcohol dependence20201924

eQTL of rs6748389 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 rs6748389 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 )
chr2239777285239777505E068-1155
chr2239776372239776809E069-1851
chr2239776901239777215E069-1445
chr2239777285239777505E069-1155
chr2239777600239778088E069-572
chr2239775670239776347E070-2313
chr2239776372239776809E070-1851
chr2239776901239777215E070-1445
chr2239772370239773729E071-4931
chr2239777285239777505E071-1155
chr2239776901239777215E072-1445
chr2239777285239777505E072-1155
chr2239773814239773981E073-4679
chr2239774495239774691E073-3969
chr2239776901239777215E073-1445
chr2239777285239777505E073-1155
chr2239776901239777215E074-1445
chr2239762906239763245E081-15415
chr2239763285239763804E081-14856
chr2239775670239776347E081-2313
chr2239775285239775623E082-3037
chr2239775670239776347E082-2313









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2239755019239757347E067-21313
chr2239755019239757347E068-21313
chr2239757375239757443E068-21217
chr2239755019239757347E069-21313
chr2239757517239758588E071-20072
chr2239757375239757443E072-21217
chr2239757517239758588E072-20072
chr2239755019239757347E073-21313
chr2239757375239757443E073-21217
chr2239757517239758588E073-20072
chr2239755019239757347E074-21313
chr2239757375239757443E074-21217
chr2239755019239757347E082-21313
chr2239757375239757443E082-21217