rs6746923

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0367 (10984/29902,GnomAD)
A==0377 (10998/29116,TOPMED)
A==0341 (1706/5008,1000G)
A==0414 (1595/3854,ALSPAC)
A==0408 (1513/3708,TWINSUK)
chr2:112795849 (GRCh38.p7) (2q14.1)
AD
GWASdb2
5   publication(s)
See rs on genome
67 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.112795849A>G
GRCh37.p13 chr 2NC_000002.11:g.113553426A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.409G=0.591
1000GenomesAmericanSub694A=0.250G=0.750
1000GenomesEast AsianSub1008A=0.220G=0.780
1000GenomesEuropeSub1006A=0.390G=0.610
1000GenomesGlobalStudy-wide5008A=0.341G=0.659
1000GenomesSouth AsianSub978A=0.390G=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.414G=0.586
The Genome Aggregation DatabaseAfricanSub8694A=0.393G=0.607
The Genome Aggregation DatabaseAmericanSub830A=0.250G=0.750
The Genome Aggregation DatabaseEast AsianSub1614A=0.216G=0.784
The Genome Aggregation DatabaseEuropeSub18462A=0.373G=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.367G=0.632
The Genome Aggregation DatabaseOtherSub302A=0.410G=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.377G=0.622
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.408G=0.592
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
18576312A broad analysis of IL1 polymorphism and rheumatoid arthritis.Johnsen AKArthritis Rheum
21756351Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes.Arora PBMC Med Genet
26496338Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation.Esposito SMedicine (Baltimore)
21362111A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A.Lozier JNHaemophilia

P-Value

SNP ID p-value Traits Study
rs67469231.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs6746923 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 rs6746923 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 )
chr2113566383113566437E06712957
chr2113566444113566525E06713018
chr2113566688113566779E06713262
chr2113566838113566944E06713412
chr2113566999113567057E06713573
chr2113567149113567199E06713723
chr2113567223113567385E06713797
chr2113507295113508062E068-45364
chr2113566383113566437E06812957
chr2113566444113566525E06813018
chr2113566688113566779E06813262
chr2113566838113566944E06813412
chr2113566999113567057E06813573
chr2113567149113567199E06813723
chr2113567223113567385E06813797
chr2113581903113582195E06828477
chr2113582279113582799E06828853
chr2113507295113508062E069-45364
chr2113508159113508303E069-45123
chr2113566383113566437E06912957
chr2113566444113566525E06913018
chr2113566688113566779E06913262
chr2113566838113566944E06913412
chr2113566999113567057E06913573
chr2113567149113567199E06913723
chr2113567223113567385E06913797
chr2113508159113508303E071-45123
chr2113526089113526432E071-26994
chr2113541831113542305E071-11121
chr2113566383113566437E07112957
chr2113566444113566525E07113018
chr2113566688113566779E07113262
chr2113566838113566944E07113412
chr2113566999113567057E07113573
chr2113567149113567199E07113723
chr2113567223113567385E07113797
chr2113569944113570070E07116518
chr2113570089113570222E07116663
chr2113570285113570656E07116859
chr2113575727113575906E07122301
chr2113581903113582195E07128477
chr2113592037113592255E07138611
chr2113541831113542305E072-11121
chr2113542500113542879E072-10547
chr2113566383113566437E07212957
chr2113566444113566525E07213018
chr2113566688113566779E07213262
chr2113566838113566944E07213412
chr2113566999113567057E07213573
chr2113567149113567199E07213723
chr2113567223113567385E07213797
chr2113570285113570656E07316859
chr2113570691113570756E07317265
chr2113570930113571047E07317504
chr2113571257113571400E07317831
chr2113507295113508062E074-45364
chr2113508159113508303E074-45123
chr2113541831113542305E074-11121
chr2113566383113566437E07412957
chr2113566444113566525E07413018
chr2113566688113566779E07413262
chr2113566838113566944E07413412
chr2113566999113567057E07413573
chr2113567149113567199E07413723
chr2113567223113567385E07413797
chr2113575727113575906E07422301
chr2113507295113508062E081-45364








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2113521287113522736E067-30690
chr2113522785113522852E067-30574
chr2113521287113522736E068-30690
chr2113522785113522852E068-30574
chr2113521287113522736E069-30690
chr2113522785113522852E069-30574
chr2113521287113522736E070-30690
chr2113522785113522852E070-30574
chr2113521287113522736E071-30690
chr2113522785113522852E071-30574
chr2113521287113522736E072-30690
chr2113522785113522852E072-30574
chr2113521287113522736E073-30690
chr2113522785113522852E073-30574
chr2113521287113522736E074-30690
chr2113522785113522852E074-30574
chr2113521287113522736E081-30690
chr2113522785113522852E081-30574
chr2113521287113522736E082-30690
chr2113522785113522852E082-30574