rs6531663

Homo sapiens
T>C
TLR1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0342 (10231/29902,GnomAD)
C=0430 (12522/29118,TOPMED)
C=0452 (2265/5008,1000G)
C=0244 (941/3854,ALSPAC)
C=0225 (834/3708,TWINSUK)
chr4:38790719 (GRCh38.p7) (4p14)
AD
GWASdb2
1   publication(s)
See rs on genome
38 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38790719T>C
GRCh37.p13 chr 4NC_000004.11:g.38792340T>C

Gene: TLR1, toll like receptor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TLR1 transcriptNM_003263.3:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X1XM_005262662.4:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X5XM_011513742.2:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X6XM_011513743.2:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X8XM_011513744.2:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X9XM_011513745.2:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X2XM_017008571.1:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X7XM_017008572.1:c.N/AGenic Downstream Transcript Variant
TLR1 transcript variant X4XR_925165.1:n.324...XR_925165.1:n.3248A>GA>GNon Coding Transcript Variant
TLR1 transcript variant X3XR_925163.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.304C=0.696
1000GenomesAmericanSub694T=0.750C=0.250
1000GenomesEast AsianSub1008T=0.520C=0.480
1000GenomesEuropeSub1006T=0.721C=0.279
1000GenomesGlobalStudy-wide5008T=0.548C=0.452
1000GenomesSouth AsianSub978T=0.590C=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.756C=0.244
The Genome Aggregation DatabaseAfricanSub8696T=0.375C=0.625
The Genome Aggregation DatabaseAmericanSub838T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1612T=0.539C=0.461
The Genome Aggregation DatabaseEuropeSub18454T=0.797C=0.202
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.657C=0.342
The Genome Aggregation DatabaseOtherSub302T=0.550C=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.570C=0.430
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.775C=0.225
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs65316631.38E-05alcohol consumption23743675

eQTL of rs6531663 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 rs6531663 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 )
chr43876089838761605E067-30735
chr43875394338755431E068-36909
chr43876089838761605E069-30735
chr43875307438753285E071-39055
chr43875333838753545E071-38795
chr43875356438753626E071-38714
chr43875394338755431E071-36909
chr43875968438759867E071-32473
chr43876089838761605E071-30735
chr43876222738762320E071-30020
chr43876407238764727E071-27613
chr43880262538802717E07110285
chr43880272438802921E07110384
chr43880308438803124E07110744
chr43881807538818437E07125735
chr43881856438818649E07126224
chr43876089838761605E072-30735
chr43876172238761850E072-30490
chr43876190738761976E072-30364
chr43876222738762320E072-30020
chr43881807538818437E07225735
chr43875333838753545E074-38795
chr43875356438753626E074-38714
chr43875957638759666E074-32674
chr43875968438759867E074-32473
chr43876089838761605E074-30735
chr43876172238761850E074-30490
chr43876190738761976E074-30364
chr43876222738762320E074-30020
chr43877100638771202E074-21138
chr43874503938745146E081-47194
chr43875105738751361E081-40979
chr43875158138751637E081-40703
chr43875163938751719E081-40621
chr43875394338755431E081-36909
chr43875105738751361E082-40979
chr43875158138751637E082-40703
chr43875163938751719E082-40621








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr43880566838807737E06713328
chr43880436838804525E06812028
chr43880467738804759E06812337
chr43880523438805284E06812894
chr43880566838807737E06813328
chr43880523438805284E06912894
chr43880566838807737E06913328
chr43880403138804077E07111691
chr43880417738804308E07111837
chr43880436838804525E07112028
chr43880467738804759E07112337
chr43880523438805284E07112894
chr43880566838807737E07113328
chr43880436838804525E07212028
chr43880467738804759E07212337
chr43880523438805284E07212894
chr43880566838807737E07213328
chr43880467738804759E07312337
chr43880523438805284E07312894
chr43880566838807737E07313328
chr43880403138804077E07411691
chr43880417738804308E07411837
chr43880436838804525E07412028
chr43880467738804759E07412337
chr43880523438805284E07412894
chr43880566838807737E07413328