rs4240872

Homo sapiens
C>T
IL6R : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0346 (10370/29918,GnomAD)
C==0357 (10420/29118,TOPMED)
C==0315 (1577/5008,1000G)
C==0217 (837/3854,ALSPAC)
C==0222 (824/3708,TWINSUK)
chr1:154463719 (GRCh38.p7) (1q21.3)
AD
GWASdb2
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.154463719C>T
GRCh37.p13 chr 1NC_000001.10:g.154436195C>T
IL6R RefSeqGeneNG_012087.1:g.63527C>T

Gene: IL6R, interleukin 6 receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
IL6R transcript variant 1NM_000565.3:c.N/AIntron Variant
IL6R transcript variant 2NM_181359.2:c.N/AIntron Variant
IL6R transcript variant 3NM_001206866.1:c.N/AGenic Downstream Transcript Variant
IL6R transcript variant X6XM_005245139.1:c.N/AIntron Variant
IL6R transcript variant X7XM_005245140.2:c.N/AIntron Variant
IL6R transcript variant X3XM_006711298.1:c.N/AIntron Variant
IL6R transcript variant X4XM_006711299.3:c.N/AIntron Variant
IL6R transcript variant X1XM_017001199.1:c.N/AIntron Variant
IL6R transcript variant X2XM_017001200.1:c.N/AIntron Variant
IL6R transcript variant X5XM_017001201.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.565T=0.435
1000GenomesAmericanSub694C=0.200T=0.800
1000GenomesEast AsianSub1008C=0.188T=0.812
1000GenomesEuropeSub1006C=0.280T=0.720
1000GenomesGlobalStudy-wide5008C=0.315T=0.685
1000GenomesSouth AsianSub978C=0.220T=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.217T=0.783
The Genome Aggregation DatabaseAfricanSub8702C=0.541T=0.459
The Genome Aggregation DatabaseAmericanSub836C=0.210T=0.790
The Genome Aggregation DatabaseEast AsianSub1616C=0.162T=0.838
The Genome Aggregation DatabaseEuropeSub18462C=0.279T=0.720
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.346T=0.653
The Genome Aggregation DatabaseOtherSub302C=0.190T=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.357T=0.642
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.222T=0.778
PMID Title Author Journal
23839018TNFRSF10B polymorphisms and haplotypes associated with increased risk of death in non-small cell lung cancer.Schabath MBCarcinogenesis
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
26626881Epistasis analysis links immune cascades and cerebral amyloidosis.Benedet ALJ Neuroinflammation
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet
18852330Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women.Qi LDiabetes
25075970The associations between immunity-related genes and breast cancer prognosis in Korean women.Choi JPLoS One
21523452Genetic variation in proinflammatory cytokines IL6, IL6R, TNF-region, and TNFRSF1A and risk of breast cancer.Madeleine MMBreast Cancer Res Treat
25781951Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease.Gigante BPLoS One
18781131Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.Gu FMelanoma Res
25409741A study of genes encoding cytokines (IL6, IL10, TNF), cytokine receptors (IL6R, IL6ST), and glucocorticoid receptor (NR3C1) and susceptibility to bronchopulmonary dysplasia.Huusko JMBMC Med Genet

P-Value

SNP ID p-value Traits Study
rs42408720.000451alcohol dependence20201924

eQTL of rs4240872 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 rs4240872 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 )
chr1154390594154391509E067-44686
chr1154391624154393122E067-43073
chr1154393357154393664E067-42531
chr1154393728154393817E067-42378
chr1154394134154394292E067-41903
chr1154394684154394789E067-41406
chr1154394967154395363E067-40832
chr1154395436154395499E067-40696
chr1154395544154395598E067-40597
chr1154395885154396482E067-39713
chr1154396748154396950E067-39245
chr1154397216154397270E067-38925
chr1154399716154400696E067-35499
chr1154400830154400990E067-35205
chr1154401218154401329E067-34866
chr1154401499154402235E067-33960
chr1154402530154402598E067-33597
chr1154402718154402821E067-33374
chr1154402835154402959E067-33236
chr1154402972154403119E067-33076
chr1154426080154426372E067-9823
chr1154426452154426547E067-9648
chr1154440725154440785E0674530
chr1154441011154441207E0674816
chr1154442202154442318E0676007
chr1154442387154442544E0676192
chr1154442631154442702E0676436
chr1154442764154442887E0676569
chr1154446436154446476E06710241
chr1154446839154446889E06710644
chr1154447305154447577E06711110
chr1154458588154458781E06722393
chr1154387145154387317E068-48878
chr1154387511154387575E068-48620
chr1154387598154387658E068-48537
chr1154387959154387999E068-48196
chr1154388978154389032E068-47163
chr1154389183154389237E068-46958
chr1154389302154389406E068-46789
chr1154389544154389598E068-46597
chr1154389745154389801E068-46394
chr1154389820154389938E068-46257
chr1154390594154391509E068-44686
chr1154391624154393122E068-43073
chr1154393357154393664E068-42531
chr1154393728154393817E068-42378
chr1154394967154395363E068-40832
chr1154395436154395499E068-40696
chr1154395544154395598E068-40597
chr1154395885154396482E068-39713
chr1154396748154396950E068-39245
chr1154397216154397270E068-38925
chr1154399716154400696E068-35499
chr1154400830154400990E068-35205
chr1154401218154401329E068-34866
chr1154401499154402235E068-33960
chr1154402530154402598E068-33597
chr1154405027154406213E068-29982
chr1154406881154407584E068-28611
chr1154425714154425979E068-10216
chr1154426080154426372E068-9823
chr1154426452154426547E068-9648
chr1154431641154431901E068-4294
chr1154435892154436535E0680
chr1154437954154438059E0681759
chr1154438364154438566E0682169
chr1154440725154440785E0684530
chr1154441011154441207E0684816
chr1154441528154441612E0685333
chr1154442202154442318E0686007
chr1154442387154442544E0686192
chr1154442631154442702E0686436
chr1154442764154442887E0686569
chr1154452170154452852E06815975
chr1154458588154458781E06822393
chr1154464832154464923E06828637
chr1154465255154465342E06829060
chr1154465759154466037E06829564
chr1154387145154387317E069-48878
chr1154387511154387575E069-48620
chr1154387598154387658E069-48537
chr1154390594154391509E069-44686
chr1154391624154393122E069-43073
chr1154393357154393664E069-42531
chr1154393728154393817E069-42378
chr1154394134154394292E069-41903
chr1154394684154394789E069-41406
chr1154394967154395363E069-40832
chr1154395436154395499E069-40696
chr1154395544154395598E069-40597
chr1154395885154396482E069-39713
chr1154396748154396950E069-39245
chr1154397216154397270E069-38925
chr1154399716154400696E069-35499
chr1154400830154400990E069-35205
chr1154401218154401329E069-34866
chr1154401499154402235E069-33960
chr1154402530154402598E069-33597
chr1154402718154402821E069-33374
chr1154402835154402959E069-33236
chr1154402972154403119E069-33076
chr1154403332154404828E069-31367
chr1154405027154406213E069-29982
chr1154425714154425979E069-10216
chr1154435892154436535E0690
chr1154441011154441207E0694816
chr1154441528154441612E0695333
chr1154442202154442318E0696007
chr1154442387154442544E0696192
chr1154446839154446889E06910644
chr1154447305154447577E06911110
chr1154447981154448031E06911786
chr1154452170154452852E06915975
chr1154458588154458781E06922393
chr1154465255154465342E06929060
chr1154399716154400696E070-35499
chr1154400830154400990E070-35205
chr1154401218154401329E070-34866
chr1154401499154402235E070-33960
chr1154402530154402598E070-33597
chr1154402718154402821E070-33374
chr1154402835154402959E070-33236
chr1154402972154403119E070-33076
chr1154403332154404828E070-31367
chr1154437776154437883E0701581
chr1154437954154438059E0701759
chr1154438364154438566E0702169
chr1154438662154439016E0702467
chr1154453217154453305E07017022
chr1154453492154453746E07017297
chr1154458588154458781E07022393
chr1154386371154386412E071-49783
chr1154386523154386573E071-49622
chr1154389745154389801E071-46394
chr1154389820154389938E071-46257
chr1154390036154390086E071-46109
chr1154390594154391509E071-44686
chr1154391624154393122E071-43073
chr1154393357154393664E071-42531
chr1154393728154393817E071-42378
chr1154394134154394292E071-41903
chr1154394684154394789E071-41406
chr1154394967154395363E071-40832
chr1154395436154395499E071-40696
chr1154395544154395598E071-40597
chr1154397216154397270E071-38925
chr1154399716154400696E071-35499
chr1154400830154400990E071-35205
chr1154401218154401329E071-34866
chr1154401499154402235E071-33960
chr1154402530154402598E071-33597
chr1154405027154406213E071-29982
chr1154425714154425979E071-10216
chr1154426080154426372E071-9823
chr1154435892154436535E0710
chr1154437776154437883E0711581
chr1154437954154438059E0711759
chr1154438364154438566E0712169
chr1154438662154439016E0712467
chr1154439436154439519E0713241
chr1154439575154440013E0713380
chr1154440239154440519E0714044
chr1154440725154440785E0714530
chr1154441011154441207E0714816
chr1154441528154441612E0715333
chr1154442202154442318E0716007
chr1154442387154442544E0716192
chr1154442631154442702E0716436
chr1154442764154442887E0716569
chr1154446436154446476E07110241
chr1154446839154446889E07110644
chr1154447305154447577E07111110
chr1154447981154448031E07111786
chr1154452170154452852E07115975
chr1154458588154458781E07122393
chr1154466356154466396E07130161
chr1154387145154387317E072-48878
chr1154387511154387575E072-48620
chr1154387598154387658E072-48537
chr1154388978154389032E072-47163
chr1154389183154389237E072-46958
chr1154389302154389406E072-46789
chr1154389544154389598E072-46597
chr1154390594154391509E072-44686
chr1154391624154393122E072-43073
chr1154393357154393664E072-42531
chr1154393728154393817E072-42378
chr1154395436154395499E072-40696
chr1154395544154395598E072-40597
chr1154395885154396482E072-39713
chr1154397216154397270E072-38925
chr1154397740154397918E072-38277
chr1154399716154400696E072-35499
chr1154400830154400990E072-35205
chr1154401218154401329E072-34866
chr1154401499154402235E072-33960
chr1154405027154406213E072-29982
chr1154425714154425979E072-10216
chr1154426080154426372E072-9823
chr1154435892154436535E0720
chr1154438364154438566E0722169
chr1154441011154441207E0724816
chr1154441528154441612E0725333
chr1154442202154442318E0726007
chr1154442387154442544E0726192
chr1154442631154442702E0726436
chr1154442764154442887E0726569
chr1154446839154446889E07210644
chr1154447305154447577E07211110
chr1154452170154452852E07215975
chr1154458588154458781E07222393
chr1154389745154389801E073-46394
chr1154389820154389938E073-46257
chr1154390594154391509E073-44686
chr1154393357154393664E073-42531
chr1154393728154393817E073-42378
chr1154394134154394292E073-41903
chr1154394684154394789E073-41406
chr1154394967154395363E073-40832
chr1154395436154395499E073-40696
chr1154395544154395598E073-40597
chr1154395885154396482E073-39713
chr1154396748154396950E073-39245
chr1154397216154397270E073-38925
chr1154399716154400696E073-35499
chr1154400830154400990E073-35205
chr1154401218154401329E073-34866
chr1154401499154402235E073-33960
chr1154405027154406213E073-29982
chr1154406881154407584E073-28611
chr1154425714154425979E073-10216
chr1154426080154426372E073-9823
chr1154435892154436535E0730
chr1154441528154441612E0735333
chr1154442202154442318E0736007
chr1154442387154442544E0736192
chr1154442631154442702E0736436
chr1154442764154442887E0736569
chr1154446839154446889E07310644
chr1154447305154447577E07311110
chr1154452170154452852E07315975
chr1154458588154458781E07322393
chr1154387145154387317E074-48878
chr1154387511154387575E074-48620
chr1154387598154387658E074-48537
chr1154388978154389032E074-47163
chr1154389183154389237E074-46958
chr1154389302154389406E074-46789
chr1154389544154389598E074-46597
chr1154389745154389801E074-46394
chr1154390594154391509E074-44686
chr1154391624154393122E074-43073
chr1154393357154393664E074-42531
chr1154393728154393817E074-42378
chr1154394134154394292E074-41903
chr1154394684154394789E074-41406
chr1154394967154395363E074-40832
chr1154395436154395499E074-40696
chr1154395544154395598E074-40597
chr1154395885154396482E074-39713
chr1154396748154396950E074-39245
chr1154399716154400696E074-35499
chr1154400830154400990E074-35205
chr1154401218154401329E074-34866
chr1154401499154402235E074-33960
chr1154402530154402598E074-33597
chr1154402718154402821E074-33374
chr1154405027154406213E074-29982
chr1154406881154407584E074-28611
chr1154425714154425979E074-10216
chr1154426080154426372E074-9823
chr1154426452154426547E074-9648
chr1154441011154441207E0744816
chr1154441528154441612E0745333
chr1154442202154442318E0746007
chr1154442387154442544E0746192
chr1154442631154442702E0746436
chr1154442764154442887E0746569
chr1154446839154446889E07410644
chr1154447305154447577E07411110
chr1154447981154448031E07411786
chr1154458588154458781E07422393
chr1154390594154391509E081-44686
chr1154391624154393122E081-43073
chr1154402718154402821E081-33374
chr1154402835154402959E081-33236
chr1154402972154403119E081-33076
chr1154406881154407584E081-28611
chr1154416115154416628E081-19567
chr1154435892154436535E0810
chr1154441011154441207E0814816
chr1154441528154441612E0815333
chr1154442202154442318E0816007
chr1154442387154442544E0816192
chr1154442631154442702E0816436
chr1154442764154442887E0816569
chr1154399716154400696E082-35499
chr1154441011154441207E0824816
chr1154458588154458781E08222393










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1154473821154473871E06737626
chr1154473888154473945E06737693
chr1154474001154474101E06737806
chr1154474197154474499E06738002
chr1154472089154472230E06835894
chr1154472394154472457E06836199
chr1154473167154473253E06836972
chr1154473345154473425E06837150
chr1154473821154473871E06837626
chr1154473888154473945E06837693
chr1154474001154474101E06837806
chr1154474197154474499E06838002
chr1154474594154475657E06838399
chr1154473345154473425E06937150
chr1154473821154473871E06937626
chr1154473888154473945E06937693
chr1154474001154474101E06937806
chr1154474197154474499E06938002
chr1154474594154475657E06938399
chr1154473167154473253E07136972
chr1154473345154473425E07137150
chr1154473821154473871E07137626
chr1154473888154473945E07137693
chr1154474001154474101E07137806
chr1154474197154474499E07138002
chr1154474594154475657E07138399
chr1154473345154473425E07237150
chr1154473821154473871E07237626
chr1154473888154473945E07237693
chr1154474001154474101E07237806
chr1154474197154474499E07238002
chr1154474594154475657E07238399
chr1154473345154473425E07337150
chr1154473821154473871E07337626
chr1154473888154473945E07337693
chr1154474001154474101E07337806
chr1154474197154474499E07338002
chr1154474594154475657E07338399
chr1154473821154473871E07437626
chr1154473888154473945E07437693
chr1154474001154474101E07437806
chr1154474197154474499E07438002