rs6488769

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1937/29936,GnomAD)
T=0101 (2953/29118,TOPMED)
T=0075 (374/5008,1000G)
T=0001 (4/3854,ALSPAC)
T=0000 (1/3708,TWINSUK)
chr12:15310362 (GRCh38.p7) (12p12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
91 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.15310362C>T
GRCh37.p13 chr 12NC_000012.11:g.15463296C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.741T=0.259
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.925T=0.075
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999T=0.001
The Genome Aggregation DatabaseAfricanSub8700C=0.780T=0.220
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1618C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18478C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.935T=0.064
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.898T=0.101
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000T=0.000
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
rs64887690.000685alcohol dependence20201924

eQTL of rs6488769 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 rs6488769 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 )
chr121550319315503306E06839897
chr121550336915503641E06840073
chr121550370415503863E06840408
chr121550319315503306E06939897
chr121550336915503641E06940073
chr121550370415503863E06940408
chr121550388115504168E06940585
chr121543163615432842E070-30454
chr121543288515433148E070-30148
chr121548209515482239E07018799
chr121548289215483094E07019596
chr121549431415494643E07031018
chr121549490715495029E07031611
chr121550319315503306E07039897
chr121550336915503641E07040073
chr121550370415503863E07040408
chr121550388115504168E07040585
chr121550426315504442E07040967
chr121550630515506359E07043009
chr121550653215506572E07043236
chr121550690315506953E07043607
chr121550707815507222E07043782
chr121550831715508382E07045021
chr121550855915508599E07045263
chr121550876915509005E07045473
chr121550911115509164E07045815
chr121550956615509616E07046270
chr121550319315503306E07139897
chr121550336915503641E07140073
chr121550370415503863E07140408
chr121550388115504168E07140585
chr121550426315504442E07140967
chr121542895615429610E074-33686
chr121543060315430653E081-32643
chr121543163615432842E081-30454
chr121547305715473258E0819761
chr121547374715474257E08110451
chr121548112615481379E08117830
chr121548140715481457E08118111
chr121548209515482239E08118799
chr121548289215483094E08119596
chr121548365215483719E08120356
chr121548576115486102E08122465
chr121548815515488209E08124859
chr121548876715489339E08125471
chr121548937615489721E08126080
chr121548979115490514E08126495
chr121549055215490655E08127256
chr121549223015492284E08128934
chr121549265815492761E08129362
chr121549314715493294E08129851
chr121549335415493465E08130058
chr121549382515493984E08130529
chr121549412615494176E08130830
chr121549431415494643E08131018
chr121549490715495029E08131611
chr121549516715495217E08131871
chr121549557015495620E08132274
chr121549580115495851E08132505
chr121549638315496437E08133087
chr121549645315496503E08133157
chr121549665415496793E08133358
chr121549702415497201E08133728
chr121549724515497299E08133949
chr121549744215497505E08134146
chr121549755115497951E08134255
chr121549949815499681E08136202
chr121550319315503306E08139897
chr121550336915503641E08140073
chr121550370415503863E08140408
chr121550388115504168E08140585
chr121550426315504442E08140967
chr121550499015505040E08141694
chr121550956615509616E08146270
chr121548876715489339E08225471
chr121548937615489721E08226080
chr121549314715493294E08229851
chr121549335415493465E08230058
chr121549382515493984E08230529
chr121549412615494176E08230830
chr121549431415494643E08231018
chr121549490715495029E08231611
chr121549516715495217E08231871
chr121549557015495620E08232274
chr121550319315503306E08239897
chr121550336915503641E08240073
chr121550370415503863E08240408
chr121550388115504168E08240585
chr121550426315504442E08240967
chr121550499015505040E08241694
chr121550956615509616E08246270







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr121547506515476098E06711769
chr121547613615476220E06712840
chr121547649815476744E06713202
chr121547721015477285E06713914
chr121547506515476098E06811769
chr121547613615476220E06812840
chr121547649815476744E06813202
chr121547721015477285E06813914
chr121547737815477440E06814082
chr121547506515476098E06911769
chr121547613615476220E06912840
chr121547506515476098E07011769
chr121547613615476220E07012840
chr121547649815476744E07013202
chr121547721015477285E07013914
chr121547737815477440E07014082
chr121547613615476220E07112840
chr121547649815476744E07113202
chr121547463115474859E07211335
chr121547489515474987E07211599
chr121547506515476098E07211769
chr121547613615476220E07212840
chr121547649815476744E07213202
chr121547721015477285E07213914
chr121547737815477440E07214082
chr121547815715478437E07214861
chr121547463115474859E07311335
chr121547489515474987E07311599
chr121547506515476098E07311769
chr121547613615476220E07312840
chr121547649815476744E07313202
chr121547721015477285E07313914
chr121547506515476098E07411769
chr121547613615476220E07412840
chr121547463115474859E08111335
chr121547489515474987E08111599
chr121547506515476098E08111769
chr121547613615476220E08112840
chr121547649815476744E08113202
chr121547721015477285E08113914
chr121547737815477440E08114082
chr121547815715478437E08114861
chr121547463115474859E08211335
chr121547489515474987E08211599
chr121547506515476098E08211769
chr121547613615476220E08212840
chr121547649815476744E08213202
chr121547721015477285E08213914
chr121547737815477440E08214082
chr121547815715478437E08214861