rs12030256

Homo sapiens
T>C
LOC107985255 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0220 (6407/29116,TOPMED)
C=0195 (976/5008,1000G)
C=0125 (480/3854,ALSPAC)
C=0128 (474/3708,TWINSUK)
chr1:209030521 (GRCh38.p7) (1q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.209030521T>C
GRCh37.p13 chr 1NC_000001.10:g.209203866T>C

Gene: LOC107985255, uncharacterized LOC107985255(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985255 transcript variant X1XR_001738441.1:n.N/AIntron Variant
LOC107985255 transcript variant X2XR_001738442.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.682C=0.318
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.827C=0.173
1000GenomesEuropeSub1006T=0.853C=0.147
1000GenomesGlobalStudy-wide5008T=0.805C=0.195
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.875C=0.125
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.779C=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.872C=0.128
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
rs120302560.000244alcohol dependence20201924

eQTL of rs12030256 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 rs12030256 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 )
chr1209235142209235648E08131276
chr1209235739209235814E08131873
chr1209236336209236418E08132470
chr1209184262209184430E082-19436
chr1209184561209184615E082-19251
chr1209212715209213248E0828849
chr1209235739209235814E08231873


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1209161980209162578E067-41288
chr1209161980209162578E068-41288
chr1209161980209162578E069-41288
chr1209161824209161912E071-41954
chr1209161980209162578E071-41288
chr1209161980209162578E072-41288
chr1209161980209162578E073-41288
chr1209161980209162578E074-41288
chr1209161980209162578E081-41288