rs6699751

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0390 (11694/29934,GnomAD)
T==0418 (12177/29116,TOPMED)
T==0377 (1889/5008,1000G)
T==0391 (1505/3854,ALSPAC)
T==0385 (1429/3708,TWINSUK)
chr1:232675683 (GRCh38.p7) (1q42.2)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.232675683T>C
GRCh37.p13 chr 1NC_000001.10:g.232811429T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.448C=0.552
1000GenomesAmericanSub694T=0.250C=0.750
1000GenomesEast AsianSub1008T=0.315C=0.685
1000GenomesEuropeSub1006T=0.412C=0.588
1000GenomesGlobalStudy-wide5008T=0.377C=0.623
1000GenomesSouth AsianSub978T=0.400C=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.391C=0.609
The Genome Aggregation DatabaseAfricanSub8712T=0.457C=0.543
The Genome Aggregation DatabaseAmericanSub836T=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1618T=0.300C=0.700
The Genome Aggregation DatabaseEuropeSub18466T=0.372C=0.627
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.390C=0.609
The Genome Aggregation DatabaseOtherSub302T=0.430C=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.418C=0.581
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.385C=0.615
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
rs66997510.0005alcohol dependence20201924

eQTL of rs6699751 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 rs6699751 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 )
chr1232840128232841016E06728699
chr1232841077232841296E06729648
chr1232841388232841442E06729959
chr1232762940232763369E068-48060
chr1232840128232841016E06828699
chr1232841077232841296E06829648
chr1232841388232841442E06829959
chr1232762210232762773E069-48656
chr1232762940232763369E069-48060
chr1232831512232831605E06920083
chr1232831715232831765E06920286
chr1232840128232841016E06928699
chr1232841077232841296E06929648
chr1232841388232841442E06929959
chr1232841466232841568E06930037
chr1232761730232761790E070-49639
chr1232820134232820222E0708705
chr1232820340232820451E0708911
chr1232820573232820731E0709144
chr1232831512232831605E07020083
chr1232831715232831765E07020286
chr1232831886232831960E07020457
chr1232840128232841016E07028699
chr1232841077232841296E07029648
chr1232841388232841442E07029959
chr1232841466232841568E07030037
chr1232762940232763369E071-48060
chr1232840128232841016E07128699
chr1232841077232841296E07129648
chr1232841388232841442E07129959
chr1232841466232841568E07130037
chr1232838835232838960E07227406
chr1232839912232839972E07228483
chr1232840128232841016E07228699
chr1232841077232841296E07229648
chr1232841388232841442E07229959
chr1232841466232841568E07230037
chr1232841641232841913E07230212
chr1232762940232763369E073-48060
chr1232840128232841016E07328699
chr1232841077232841296E07329648
chr1232840128232841016E07428699
chr1232841077232841296E07429648
chr1232841388232841442E07429959
chr1232841466232841568E07430037
chr1232762940232763369E081-48060









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1232763408232766883E067-44546
chr1232763408232766883E068-44546
chr1232763408232766883E069-44546
chr1232763408232766883E070-44546
chr1232763408232766883E071-44546
chr1232763408232766883E072-44546
chr1232763408232766883E073-44546
chr1232763408232766883E074-44546
chr1232763408232766883E081-44546
chr1232763408232766883E082-44546