rs6987448

Homo sapiens
C>T
LOC105375821 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0041 (1247/30000,GnomAD)
T=0038 (1130/29118,TOPMED)
T=0046 (229/5008,1000G)
T=0054 (208/3854,ALSPAC)
T=0047 (174/3708,TWINSUK)
chr8:48410825 (GRCh38.p7) (8q11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
100 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.48410825C>T
GRCh37.p13 chr 8NC_000008.10:g.49323385C>T

Gene: LOC105375821, uncharacterized LOC105375821(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375821 transcript variant X1XR_001745891.1:n.N/AIntron Variant
LOC105375821 transcript variant X3XR_001745893.1:n.N/AIntron Variant
LOC105375821 transcript variant X2XR_001745892.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.983T=0.017
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.952T=0.048
1000GenomesGlobalStudy-wide5008C=0.954T=0.046
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.946T=0.054
The Genome Aggregation DatabaseAfricanSub8728C=0.980T=0.020
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1622C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18510C=0.943T=0.056
The Genome Aggregation DatabaseGlobalStudy-wide30000C=0.958T=0.041
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.961T=0.038
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.953T=0.047
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
rs69874480.00067alcohol dependence20201924

eQTL of rs6987448 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 rs6987448 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 )
chr84930857549311713E067-11672
chr84933975949339835E06716374
chr84933984049339981E06716455
chr84934002049340441E06716635
chr84934047049341670E06717085
chr84934169149341771E06718306
chr84934188549345109E06718500
chr84930857549311713E068-11672
chr84931173449311825E068-11560
chr84933093049331248E0687545
chr84934002049340441E06816635
chr84934047049341670E06817085
chr84934169149341771E06818306
chr84934188549345109E06818500
chr84934002049340441E06916635
chr84934047049341670E06917085
chr84934169149341771E06918306
chr84934188549345109E06918500
chr84930857549311713E070-11672
chr84931874949318852E071-4533
chr84931890649319573E071-3812
chr84933093049331248E0717545
chr84933131049332029E0717925
chr84933975949339835E07116374
chr84933984049339981E07116455
chr84934002049340441E07116635
chr84934188549345109E07118500
chr84933131049332029E0727925
chr84933975949339835E07216374
chr84933984049339981E07216455
chr84934002049340441E07216635
chr84934047049341670E07217085
chr84934188549345109E07218500
chr84934521249345316E07221827
chr84934547449345576E07222089
chr84933093049331248E0737545
chr84933131049332029E0737925
chr84933950749339615E07316122
chr84933975949339835E07316374
chr84933984049339981E07316455
chr84934002049340441E07316635
chr84934047049341670E07317085
chr84934169149341771E07318306
chr84934188549345109E07318500
chr84934521249345316E07321827
chr84934547449345576E07322089
chr84934575849345896E07322373
chr84934591449345985E07322529
chr84934603749346197E07322652
chr84934620349346317E07322818
chr84933932149339416E07415936
chr84933950749339615E07416122
chr84933975949339835E07416374
chr84933984049339981E07416455
chr84934002049340441E07416635
chr84934047049341670E07417085
chr84934169149341771E07418306
chr84934521249345316E07421827
chr84934547449345576E07422089
chr84934575849345896E07422373
chr84934591449345985E07422529
chr84934603749346197E07422652
chr84930711249307169E081-16216
chr84930734949307437E081-15948
chr84930745849307977E081-15408
chr84930804349308093E081-15292
chr84930857549311713E081-11672
chr84931173449311825E081-11560
chr84931187249313032E081-10353
chr84931306749313487E081-9898
chr84931361249313662E081-9723
chr84931368349313892E081-9493
chr84931397949314249E081-9136
chr84931466149314782E081-8603
chr84931488849315371E081-8014
chr84933237549333771E0818990
chr84933388049334457E08110495
chr84933457349334623E08111188
chr84933488649334956E08111501
chr84933921049339294E08115825
chr84933932149339416E08115936
chr84933950749339615E08116122
chr84933975949339835E08116374
chr84933984049339981E08116455
chr84934002049340441E08116635
chr84934047049341670E08117085
chr84934169149341771E08118306
chr84934188549345109E08118500
chr84930745849307977E082-15408
chr84930857549311713E082-11672
chr84931173449311825E082-11560
chr84933388049334457E08210495
chr84933921049339294E08215825
chr84933932149339416E08215936
chr84933950749339615E08216122
chr84933975949339835E08216374
chr84933984049339981E08216455
chr84934002049340441E08216635
chr84934047049341670E08217085
chr84934169149341771E08218306










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr84929196749293866E067-29519
chr84929196749293866E068-29519
chr84929196749293866E069-29519
chr84929196749293866E072-29519
chr84929196749293866E073-29519
chr84929196749293866E074-29519
chr84929196749293866E082-29519