rs4833093

Homo sapiens
G>T
TLR1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0296 (8833/29830,GnomAD)
T=0360 (10504/29118,TOPMED)
T=0403 (2020/5008,1000G)
T=0241 (930/3854,ALSPAC)
T=0223 (827/3708,TWINSUK)
chr4:38788119 (GRCh38.p7) (4p14)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38788119G>T
GRCh37.p13 chr 4NC_000004.11:g.38789740G>T

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.584...XR_925165.1:n.5848C>AC>ANon 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
1000GenomesAfricanSub1322G=0.464T=0.536
1000GenomesAmericanSub694G=0.770T=0.230
1000GenomesEast AsianSub1008G=0.520T=0.480
1000GenomesEuropeSub1006G=0.721T=0.279
1000GenomesGlobalStudy-wide5008G=0.597T=0.403
1000GenomesSouth AsianSub978G=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.759T=0.241
The Genome Aggregation DatabaseAfricanSub8648G=0.529T=0.471
The Genome Aggregation DatabaseAmericanSub832G=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1612G=0.539T=0.461
The Genome Aggregation DatabaseEuropeSub18438G=0.798T=0.201
The Genome Aggregation DatabaseGlobalStudy-wide29830G=0.703T=0.296
The Genome Aggregation DatabaseOtherSub300G=0.550T=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.639T=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.777T=0.223
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
rs48330931.38E-05alcohol consumption23743675

eQTL of rs4833093 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 rs4833093 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 )
chr43876089838761605E067-28135
chr43875394338755431E068-34309
chr43876089838761605E069-28135
chr43874051238740745E071-48995
chr43874081238740864E071-48876
chr43875307438753285E071-36455
chr43875333838753545E071-36195
chr43875356438753626E071-36114
chr43875394338755431E071-34309
chr43875968438759867E071-29873
chr43876089838761605E071-28135
chr43876222738762320E071-27420
chr43876407238764727E071-25013
chr43880262538802717E07112885
chr43880272438802921E07112984
chr43880308438803124E07113344
chr43881807538818437E07128335
chr43881856438818649E07128824
chr43876089838761605E072-28135
chr43876172238761850E072-27890
chr43876190738761976E072-27764
chr43876222738762320E072-27420
chr43881807538818437E07228335
chr43875333838753545E074-36195
chr43875356438753626E074-36114
chr43875957638759666E074-30074
chr43875968438759867E074-29873
chr43876089838761605E074-28135
chr43876172238761850E074-27890
chr43876190738761976E074-27764
chr43876222738762320E074-27420
chr43877100638771202E074-18538
chr43874503938745146E081-44594
chr43875105738751361E081-38379
chr43875158138751637E081-38103
chr43875163938751719E081-38021
chr43875394338755431E081-34309
chr43875105738751361E082-38379
chr43875158138751637E082-38103
chr43875163938751719E082-38021








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr43880566838807737E06715928
chr43880436838804525E06814628
chr43880467738804759E06814937
chr43880523438805284E06815494
chr43880566838807737E06815928
chr43880523438805284E06915494
chr43880566838807737E06915928
chr43880403138804077E07114291
chr43880417738804308E07114437
chr43880436838804525E07114628
chr43880467738804759E07114937
chr43880523438805284E07115494
chr43880566838807737E07115928
chr43880436838804525E07214628
chr43880467738804759E07214937
chr43880523438805284E07215494
chr43880566838807737E07215928
chr43880467738804759E07314937
chr43880523438805284E07315494
chr43880566838807737E07315928
chr43880403138804077E07414291
chr43880417738804308E07414437
chr43880436838804525E07414628
chr43880467738804759E07414937
chr43880523438805284E07415494
chr43880566838807737E07415928