rs377765

Homo sapiens
C>G / C>T
CARS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0312 (9350/29906,GnomAD)
T=0291 (8489/29118,TOPMED)
T=0385 (1930/5008,1000G)
T=0400 (1540/3854,ALSPAC)
T=0391 (1448/3708,TWINSUK)
chr11:3025068 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3025068C>G
GRCh38.p7 chr 11NC_000011.10:g.3025068C>T
GRCh37.p13 chr 11NC_000011.9:g.3046298C>G
GRCh37.p13 chr 11NC_000011.9:g.3046298C>T
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.256125T>C
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.256125T>G

Gene: CARS, cysteinyl-tRNA synthetase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CARS transcript variant 3NM_001014437.2:c.N/AIntron Variant
CARS transcript variant 5NM_001194997.1:c.N/AIntron Variant
CARS transcript variant 2NM_001751.5:c.N/AIntron Variant
CARS transcript variant 1NM_139273.3:c.N/AIntron Variant
CARS transcript variant 4NR_036542.1:n.N/AIntron Variant
CARS transcript variant X8XM_006718341.3:c.N/AIntron Variant
CARS transcript variant X9XM_017018389.1:c.N/AIntron Variant
CARS transcript variant X10XM_017018390.1:c.N/AIntron Variant
CARS transcript variant X15XM_017018391.1:c.N/AIntron Variant
CARS transcript variant X12XM_017018392.1:c.N/AIntron Variant
CARS transcript variant X6XR_001747995.1:n.N/AIntron Variant
CARS transcript variant X7XR_001747996.1:n.N/AIntron Variant
CARS transcript variant X14XR_001747997.1:n.N/AIntron Variant
CARS transcript variant X17XR_001747998.1:n.N/AIntron Variant
CARS transcript variant X1XR_428857.1:n.N/AIntron Variant
CARS transcript variant X7XR_930913.1:n.N/AIntron Variant
CARS transcript variant X16XR_930914.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.950T=0.050
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.341T=0.659
1000GenomesEuropeSub1006C=0.605T=0.395
1000GenomesGlobalStudy-wide5008C=0.615T=0.385
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.600T=0.400
The Genome Aggregation DatabaseAfricanSub8714C=0.903G=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.440G=0.00,
The Genome Aggregation DatabaseEast AsianSub1616C=0.369G=0.007
The Genome Aggregation DatabaseEuropeSub18436C=0.625G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29906C=0.687G=0.000
The Genome Aggregation DatabaseOtherSub302C=0.570G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.708T=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.609T=0.391
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
rs3777650.00046alcohol dependence(early age of onset)20201924
rs3777650.00052alcohol dependence20201924

eQTL of rs377765 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 rs377765 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 )
chr115622086956220919E081-41135
chr115622097556221505E081-40549
chr115622164456221698E081-40356
chr115622176256221836E081-40218
chr115626331056263374E0811256
chr115627138156271435E0819327
chr115627158956271659E0819535
chr115627301056273050E08110956