rs231872

Homo sapiens
G>A / G>C / G>T
KCNQ1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0405 (12140/29912,GnomAD)
G==0399 (11638/29118,TOPMED)
G==0444 (2222/5008,1000G)
G==0367 (1414/3854,ALSPAC)
G==0367 (1360/3708,TWINSUK)
chr11:2765831 (GRCh38.p7) (11p15.5)
ND
GWASdb2
1   publication(s)
See rs on genome
118 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.2765831G>A
GRCh38.p7 chr 11NC_000011.10:g.2765831G>C
GRCh38.p7 chr 11NC_000011.10:g.2765831G>T
GRCh37.p13 chr 11NC_000011.9:g.2787061G>A
GRCh37.p13 chr 11NC_000011.9:g.2787061G>C
GRCh37.p13 chr 11NC_000011.9:g.2787061G>T
KCNQ1 RefSeqGene LRG_287
KCNQ1 RefSeqGene LRG_287
KCNQ1 RefSeqGene LRG_287

Gene: KCNQ1, potassium voltage-gated channel subfamily Q member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNQ1 transcript variant 1NM_000218.2:c.N/AIntron Variant
KCNQ1 transcript variant 2NM_181798.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.489T=0.511
1000GenomesAmericanSub694G=0.320T=0.680
1000GenomesEast AsianSub1008G=0.449T=0.551
1000GenomesEuropeSub1006G=0.350T=0.650
1000GenomesGlobalStudy-wide5008G=0.444T=0.556
1000GenomesSouth AsianSub978G=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.367T=0.633
The Genome Aggregation DatabaseAfricanSub8704G=0.484T=0.516
The Genome Aggregation DatabaseAmericanSub838G=0.300T=0.70,
The Genome Aggregation DatabaseEast AsianSub1610G=0.466T=0.534
The Genome Aggregation DatabaseEuropeSub18458G=0.368T=0.631
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.405T=0.594
The Genome Aggregation DatabaseOtherSub302G=0.420T=0.58,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.399T=0.600
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.367T=0.633
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs2318723.72E-05alcohol and nictotine co-dependence20158304

eQTL of rs231872 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 rs231872 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 )
chr1174784327478772E067-10198
chr1175316437531693E06742673
chr1175317167531794E06742746
chr1175324587533180E06743488
chr1174784327478772E068-10198
chr1175311437531496E06842173
chr1175316437531693E06842673
chr1175317167531794E06842746
chr1175362097536253E06847239
chr1175363337536400E06847363
chr1175366087536658E06847638
chr1175366657536803E06847695
chr1175368917537113E06847921
chr1175371187537228E06848148
chr1175372767537347E06848306
chr1174714957471693E069-17277
chr1174716947471744E069-17226
chr1174718157471880E069-17090
chr1174719987472137E069-16833
chr1174721817473193E069-15777
chr1174784327478772E069-10198
chr1174922427492580E0693272
chr1175311437531496E06942173
chr1175316437531693E06942673
chr1175317167531794E06942746
chr1175324587533180E06943488
chr1175362097536253E06947239
chr1175363337536400E06947363
chr1175366087536658E06947638
chr1175366657536803E06947695
chr1175368917537113E06947921
chr1175371187537228E06948148
chr1175372767537347E06948306
chr1174646987464752E070-24218
chr1174647947464941E070-24029
chr1174650097465059E070-23911
chr1174651287465243E070-23727
chr1174652987465370E070-23600
chr1174653757466283E070-22687
chr1174664987466548E070-22422
chr1174666267466676E070-22294
chr1174668217467178E070-21792
chr1175094787509615E07020508
chr1175171077517964E07028137
chr1175203947520631E07031424
chr1175207197520892E07031749
chr1175211197521261E07032149
chr1175214577521541E07032487
chr1175216537521724E07032683
chr1175324587533180E07043488
chr1174575247457682E071-31288
chr1174711357471307E071-17663
chr1174714957471693E071-17277
chr1174716947471744E071-17226
chr1174718157471880E071-17090
chr1174719987472137E071-16833
chr1174721817473193E071-15777
chr1174918087491890E0712838
chr1174920507492126E0713080
chr1174922427492580E0713272
chr1175311437531496E07142173
chr1175316437531693E07142673
chr1175317167531794E07142746
chr1175324587533180E07143488
chr1175368917537113E07147921
chr1175371187537228E07148148
chr1175372767537347E07148306
chr1175377577538049E07148787
chr1174705917471065E072-17905
chr1174711357471307E072-17663
chr1174714957471693E072-17277
chr1174716947471744E072-17226
chr1174718157471880E072-17090
chr1174719987472137E072-16833
chr1174784327478772E072-10198
chr1174912767491329E0722306
chr1175311437531496E07242173
chr1175316437531693E07242673
chr1175317167531794E07242746
chr1175371187537228E07248148
chr1175372767537347E07248306
chr1175377577538049E07248787
chr1174784327478772E073-10198
chr1175324587533180E07343488
chr1174483697448409E074-40561
chr1174488077448870E074-40100
chr1174490307449169E074-39801
chr1174711357471307E074-17663
chr1174714957471693E074-17277
chr1174716947471744E074-17226
chr1174718157471880E074-17090
chr1174719987472137E074-16833
chr1174784327478772E074-10198
chr1174922427492580E0743272
chr1175311437531496E07442173
chr1175316437531693E07442673
chr1175317167531794E07442746
chr1175324587533180E07443488
chr1175366087536658E07447638
chr1175366657536803E07447695
chr1175368917537113E07447921
chr1175371187537228E07448148
chr1175372767537347E07448306
chr1175193867519706E08130416
chr1175197887519866E08130818
chr1175198687519928E08130898
chr1175200237520150E08131053
chr1175201827520275E08131212
chr1175203947520631E08131424
chr1175207197520892E08131749
chr1175366657536803E08147695
chr1175368917537113E08147921
chr1175197887519866E08230818
chr1175198687519928E08230898
chr1175207197520892E08231749
chr1175211197521261E08232149
chr1175214577521541E08232487
chr1175366657536803E08247695










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1175332437535994E06744273
chr1175360207536198E06747050
chr1175332437535994E06844273
chr1175332437535994E06944273
chr1175332437535994E07144273
chr1175360207536198E07147050
chr1175332437535994E07244273
chr1175360207536198E07247050
chr1175063637507266E07317393
chr1175073157507545E07318345
chr1175332437535994E07344273
chr1175360207536198E07347050
chr1175332437535994E07444273
chr1175360207536198E07447050
chr1175332437535994E08244273
chr1175360207536198E08247050