rs17616434

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0410 (12284/29902,GnomAD)
T==0473 (13800/29118,TOPMED)
T==0427 (2136/5008,1000G)
C=0249 (958/3854,ALSPAC)
C=0227 (843/3708,TWINSUK)
chr4:38811255 (GRCh38.p7) (4p14)
AD
GWASdb2
5   publication(s)
See rs on genome
19 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38811255T>C
GRCh37.p13 chr 4NC_000004.11:g.38812876T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.103C=0.897
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.396C=0.604
1000GenomesEuropeSub1006T=0.716C=0.284
1000GenomesGlobalStudy-wide5008T=0.427C=0.573
1000GenomesSouth AsianSub978T=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.751C=0.249
The Genome Aggregation DatabaseAfricanSub8694T=0.202C=0.798
The Genome Aggregation DatabaseAmericanSub836T=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1614T=0.393C=0.607
The Genome Aggregation DatabaseEuropeSub18458T=0.793C=0.206
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.589C=0.410
The Genome Aggregation DatabaseOtherSub300T=0.540C=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.473C=0.526
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.773C=0.227
PMID Title Author Journal
21776015Toll-like receptor 4 region genetic variants are associated with susceptibility to melioidosis.West TEGenes Immun
26941931Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?Henneman PClin Transl Allergy
26019233Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding locidagger.Kirsten HHum Mol Genet
20445564Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion.Shey MSGenes Immun
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
rs176164346.71E-06alcohol consumption23743675

eQTL of rs17616434 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 rs17616434 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 )
chr43885905738859885E06746181
chr43885891338858989E06846037
chr43885905738859885E06846181
chr43885905738859885E06946181
chr43876407238764727E071-48149
chr43880262538802717E071-10159
chr43880272438802921E071-9955
chr43880308438803124E071-9752
chr43881807538818437E0715199
chr43881856438818649E0715688
chr43885891338858989E07146037
chr43885905738859885E07146181
chr43886012638860269E07147250
chr43881807538818437E0725199
chr43885905738859885E07246181
chr43877100638771202E074-41674
chr43885891338858989E07446037
chr43885905738859885E07446181
chr43886087638861110E07448000






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr43880566838807737E067-5139
chr43880436838804525E068-8351
chr43880467738804759E068-8117
chr43880523438805284E068-7592
chr43880566838807737E068-5139
chr43885770838857951E06844832
chr43885802638858135E06845150
chr43885814338858706E06845267
chr43880523438805284E069-7592
chr43880566838807737E069-5139
chr43885770838857951E06944832
chr43885802638858135E06945150
chr43885814338858706E06945267
chr43880403138804077E071-8799
chr43880417738804308E071-8568
chr43880436838804525E071-8351
chr43880467738804759E071-8117
chr43880523438805284E071-7592
chr43880566838807737E071-5139
chr43885770838857951E07144832
chr43885802638858135E07145150
chr43880436838804525E072-8351
chr43880467738804759E072-8117
chr43880523438805284E072-7592
chr43880566838807737E072-5139
chr43885770838857951E07244832
chr43885802638858135E07245150
chr43885814338858706E07245267
chr43880467738804759E073-8117
chr43880523438805284E073-7592
chr43880566838807737E073-5139
chr43885802638858135E07345150
chr43885814338858706E07345267
chr43880403138804077E074-8799
chr43880417738804308E074-8568
chr43880436838804525E074-8351
chr43880467738804759E074-8117
chr43880523438805284E074-7592
chr43880566838807737E074-5139
chr43885770838857951E07444832
chr43885802638858135E07445150
chr43885814338858706E07445267