rs1343485

Homo sapiens
A>C
LOC105377864 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0244 (7317/29932,GnomAD)
C=0196 (5734/29118,TOPMED)
C=0177 (887/5008,1000G)
C=0332 (1278/3854,ALSPAC)
C=0321 (1191/3708,TWINSUK)
chr6:77451216 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.77451216A>C
GRCh37.p13 chr 6NC_000006.11:g.78160933A>C

Gene: LOC105377864, uncharacterized LOC105377864(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377864 transcriptXR_942708.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.963C=0.037
1000GenomesAmericanSub694A=0.730C=0.270
1000GenomesEast AsianSub1008A=0.884C=0.116
1000GenomesEuropeSub1006A=0.637C=0.363
1000GenomesGlobalStudy-wide5008A=0.823C=0.177
1000GenomesSouth AsianSub978A=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.668C=0.332
The Genome Aggregation DatabaseAfricanSub8720A=0.925C=0.075
The Genome Aggregation DatabaseAmericanSub836A=0.710C=0.290
The Genome Aggregation DatabaseEast AsianSub1618A=0.895C=0.105
The Genome Aggregation DatabaseEuropeSub18456A=0.667C=0.332
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.755C=0.244
The Genome Aggregation DatabaseOtherSub302A=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.803C=0.196
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.679C=0.321
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
rs13434850.00079alcohol dependence20201924

eQTL of rs1343485 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 rs1343485 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 )
chr67818047678180539E08219543

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr67817136778171444E06710434
chr67817148978171565E06710556
chr67817171078171842E06710777
chr67817186578171984E06710932
chr67817207478174434E06711141
chr67817085578170913E0689922
chr67817098778171052E06810054
chr67817109478171144E06810161
chr67817136778171444E06810434
chr67817148978171565E06810556
chr67817171078171842E06810777
chr67817186578171984E06810932
chr67817207478174434E06811141
chr67817555378177186E06814620
chr67817171078171842E06910777
chr67817186578171984E06910932
chr67817555378177186E06914620
chr67817136778171444E07010434
chr67817148978171565E07010556
chr67817171078171842E07010777
chr67817186578171984E07010932
chr67817555378177186E07014620
chr67817136778171444E07110434
chr67817148978171565E07110556
chr67817171078171842E07110777
chr67817186578171984E07110932
chr67817136778171444E07210434
chr67817148978171565E07210556
chr67817171078171842E07210777
chr67817186578171984E07210932
chr67817207478174434E07211141
chr67817555378177186E07214620
chr67817136778171444E07310434
chr67817148978171565E07310556
chr67817171078171842E07310777
chr67817186578171984E07310932
chr67817207478174434E07311141
chr67817555378177186E07314620
chr67817171078171842E07410777
chr67817186578171984E07410932
chr67817207478174434E07411141
chr67817555378177186E07414620
chr67817207478174434E08211141