rs1321311

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0274 (8221/29940,GnomAD)
A=0305 (8886/29118,TOPMED)
A=0276 (1384/5008,1000G)
A=0243 (938/3854,ALSPAC)
A=0245 (907/3708,TWINSUK)
chr6:36655123 (GRCh38.p7) (6p21.2)
AD
GWASdb2
17   publication(s)
See rs on genome
156 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.36655123C>A
GRCh37.p13 chr 6NC_000006.11:g.36622900C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.589A=0.411
1000GenomesAmericanSub694C=0.810A=0.190
1000GenomesEast AsianSub1008C=0.831A=0.169
1000GenomesEuropeSub1006C=0.783A=0.217
1000GenomesGlobalStudy-wide5008C=0.724A=0.276
1000GenomesSouth AsianSub978C=0.670A=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.757A=0.243
The Genome Aggregation DatabaseAfricanSub8712C=0.606A=0.394
The Genome Aggregation DatabaseAmericanSub832C=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1618C=0.816A=0.184
The Genome Aggregation DatabaseEuropeSub18476C=0.770A=0.229
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.725A=0.274
The Genome Aggregation DatabaseOtherSub302C=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.694A=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.755A=0.245
PMID Title Author Journal
24587672New genes emerging for colorectal cancer predisposition.Esteban-Jurado CWorld J Gastroenterol
27078840Genetic Variants Associated with Colorectal Adenoma Susceptibility.Abuli APLoS One
25799222Association between GWAS-identified genetic variations and disease prognosis for patients with colorectal cancer.Kang BWPLoS One
23946381Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.Ma XGut
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27630819Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.Dunkhase EGenom Data
24705330Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery.Whiffin NGenes (Basel)
27765935Gene polymorphisms are associated with clinical outcome in Chinese resected laryngeal carcinoma patients.Chen POncotarget
27146020Colorectal cancer risk genes are functionally enriched in regulatory pathways.Lu XSci Rep
22634755Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.Dunlop MGNat Genet
26078566Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population.Geng TTWorld J Gastroenterol
24846176Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.Koopmann TTPLoS One
27379672Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.Du MPLoS One
28233817Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study.Ibanez-Sanz GSci Rep
24764655Genetic variations in colorectal cancer risk and clinical outcome.Zhang KWorld J Gastroenterol
24994789Gene-environment interaction involving recently identified colorectal cancer susceptibility Loci.Kantor EDCancer Epidemiol Biomarkers Prev
21076409Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.Sotoodehnia NNat Genet

P-Value

SNP ID p-value Traits Study
rs13213110.00062alcohol dependence(early age of onset)20201924
rs13213110.00077alcohol dependence20201924

eQTL of rs1321311 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 rs1321311 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 )
chr63657297636573042E067-49858
chr63657318136573365E067-49535
chr63657351736573763E067-49137
chr63657532136576117E067-46783
chr63658464936585367E067-37533
chr63659087836591641E067-31259
chr63659275536593308E067-29592
chr63659334736593599E067-29301
chr63660453336604803E067-18097
chr63660488636605053E067-17847
chr63663418336634271E06711283
chr63663445536634547E06711555
chr63663463736635354E06711737
chr63664388736644663E06720987
chr63664484436645401E06721944
chr63657639136576518E068-46382
chr63657673236576818E068-46082
chr63657685036577747E068-45153
chr63659087836591641E068-31259
chr63659169636592086E068-30814
chr63659334736593599E068-29301
chr63660171336602187E068-20713
chr63660453336604803E068-18097
chr63660488636605053E068-17847
chr63661067636611542E068-11358
chr63663027636631038E0687376
chr63663108336631199E0688183
chr63663418336634271E06811283
chr63663445536634547E06811555
chr63663463736635354E06811737
chr63663550136635555E06812601
chr63664388736644663E06820987
chr63664484436645401E06821944
chr63664972036651350E06826820
chr63657685036577747E069-45153
chr63658464936585367E069-37533
chr63659087836591641E069-31259
chr63659334736593599E069-29301
chr63660171336602187E069-20713
chr63660453336604803E069-18097
chr63660488636605053E069-17847
chr63663418336634271E06911283
chr63663445536634547E06911555
chr63663463736635354E06911737
chr63664388736644663E06920987
chr63664484436645401E06921944
chr63657297636573042E070-49858
chr63657318136573365E070-49535
chr63657351736573763E070-49137
chr63657379436573915E070-48985
chr63657391736574003E070-48897
chr63657297636573042E071-49858
chr63657318136573365E071-49535
chr63657351736573763E071-49137
chr63657379436573915E071-48985
chr63657391736574003E071-48897
chr63657402736574106E071-48794
chr63657532136576117E071-46783
chr63657628836576390E071-46510
chr63657639136576518E071-46382
chr63658464936585367E071-37533
chr63658636236586585E071-36315
chr63658679436586933E071-35967
chr63659087836591641E071-31259
chr63659169636592086E071-30814
chr63659220936592331E071-30569
chr63659681236597095E071-25805
chr63659715736597418E071-25482
chr63660171336602187E071-20713
chr63660262636602741E071-20159
chr63660453336604803E071-18097
chr63660488636605053E071-17847
chr63661067636611542E071-11358
chr63661191936612010E071-10890
chr63662907136629121E0716171
chr63662913736629254E0716237
chr63663418336634271E07111283
chr63663445536634547E07111555
chr63663550136635555E07112601
chr63663566836635720E07112768
chr63663580136635845E07112901
chr63663651436636610E07113614
chr63663687136637086E07113971
chr63664484436645401E07121944
chr63657532136576117E072-46783
chr63658464936585367E072-37533
chr63659087836591641E072-31259
chr63660171336602187E072-20713
chr63660453336604803E072-18097
chr63660488636605053E072-17847
chr63661067636611542E072-11358
chr63663418336634271E07211283
chr63663445536634547E07211555
chr63663463736635354E07211737
chr63664484436645401E07221944
chr63658464936585367E073-37533
chr63659087836591641E073-31259
chr63659169636592086E073-30814
chr63659220936592331E073-30569
chr63659275536593308E073-29592
chr63659561636595993E073-26907
chr63660171336602187E073-20713
chr63661067636611542E073-11358
chr63662907136629121E0736171
chr63662913736629254E0736237
chr63663418336634271E07311283
chr63663445536634547E07311555
chr63663463736635354E07311737
chr63664484436645401E07321944
chr63657402736574106E074-48794
chr63657532136576117E074-46783
chr63657628836576390E074-46510
chr63657639136576518E074-46382
chr63657673236576818E074-46082
chr63657685036577747E074-45153
chr63658447036584530E074-38370
chr63658464936585367E074-37533
chr63659087836591641E074-31259
chr63659334736593599E074-29301
chr63659533836595462E074-27438
chr63659681236597095E074-25805
chr63659715736597418E074-25482
chr63660171336602187E074-20713
chr63660453336604803E074-18097
chr63660488636605053E074-17847
chr63662913736629254E0746237
chr63663418336634271E07411283
chr63663445536634547E07411555
chr63663463736635354E07411737
chr63664388736644663E07420987
chr63664484436645401E07421944
chr63657379436573915E081-48985
chr63657391736574003E081-48897
chr63657402736574106E081-48794
chr63657414236574202E081-48698
chr63657445336574540E081-48360
chr63657462736574755E081-48145
chr63657477436574896E081-48004
chr63658464936585367E081-37533
chr63659087836591641E081-31259
chr63659169636592086E081-30814
chr63659898136599730E081-23170
chr63660488636605053E081-17847
chr63660578736605835E081-17065
chr63657297636573042E082-49858
chr63657318136573365E082-49535
chr63657351736573763E082-49137
chr63657379436573915E082-48985
chr63657391736574003E082-48897
chr63657402736574106E082-48794
chr63657414236574202E082-48698
chr63657532136576117E082-46783
chr63657685036577747E082-45153
chr63658464936585367E082-37533
chr63659220936592331E082-30569
chr63660578736605835E082-17065










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63662843336628957E0675533
chr63664541536649035E06722515
chr63664541536649035E06822515
chr63664541536649035E06922515
chr63664541536649035E07122515
chr63664541536649035E07222515
chr63662843336628957E0735533
chr63664541536649035E07322515
chr63662843336628957E0745533
chr63664541536649035E07422515
chr63662843336628957E0825533