rs12574151

Homo sapiens
T>G
KCNQ1OT1 : Non Coding Transcript Variant
KCNQ1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0090 (2701/29966,GnomAD)
G=0086 (2525/29118,TOPMED)
G=0073 (368/5008,1000G)
G=0123 (473/3854,ALSPAC)
G=0121 (449/3708,TWINSUK)
chr11:2659888 (GRCh38.p7) (11p15.5)
AD
GWASdb2
1   publication(s)
See rs on genome
217 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.2659888T>G
GRCh37.p13 chr 11NC_000011.9:g.2681118T>G
KCNQ1OT1 RefSeqGeneNG_016178.2:g.45111A>C
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

Gene: KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNQ1OT1 transcriptNR_002728.3:n.401...NR_002728.3:n.40111A>CA>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.939G=0.061
1000GenomesAmericanSub694T=0.940G=0.060
1000GenomesEast AsianSub1008T=0.956G=0.044
1000GenomesEuropeSub1006T=0.896G=0.104
1000GenomesGlobalStudy-wide5008T=0.927G=0.073
1000GenomesSouth AsianSub978T=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.877G=0.123
The Genome Aggregation DatabaseAfricanSub8728T=0.934G=0.066
The Genome Aggregation DatabaseAmericanSub838T=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1618T=0.947G=0.053
The Genome Aggregation DatabaseEuropeSub18480T=0.894G=0.105
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.909G=0.090
The Genome Aggregation DatabaseOtherSub302T=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.913G=0.086
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.879G=0.121
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs125741510.00045alcohol dependence(early age of onset)20201924
rs125741510.00046alcohol dependence20201924

eQTL of rs12574151 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 rs12574151 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 )
chr1126967012697222E06715583
chr1126973922697732E06716274
chr1126978912698008E06716773
chr1126980242698064E06716906
chr1126981772698259E06717059
chr1127099062709946E06728788
chr1127100152710069E06728897
chr1127101602710236E06729042
chr1127102502710300E06729132
chr1127103772710477E06729259
chr1127120712712717E06730953
chr1127127522712890E06731634
chr1127128982713174E06731780
chr1127132552713309E06732137
chr1127133472713467E06732229
chr1127157112715861E06734593
chr1127238082724441E06742690
chr1126951522696534E06814034
chr1126965782696685E06815460
chr1126967012697222E06815583
chr1126973922697732E06816274
chr1126978912698008E06816773
chr1126980242698064E06816906
chr1126981772698259E06817059
chr1127094912709603E06828373
chr1127097462709863E06828628
chr1127099062709946E06828788
chr1127100152710069E06828897
chr1127101602710236E06829042
chr1127102502710300E06829132
chr1127103772710477E06829259
chr1127107502710813E06829632
chr1127108222711053E06829704
chr1127111182711349E06830000
chr1127113752711681E06830257
chr1127120712712717E06830953
chr1127127522712890E06831634
chr1127128982713174E06831780
chr1127135722715673E06832454
chr1127157112715861E06834593
chr1127158622716017E06834744
chr1127238082724441E06842690
chr1126951522696534E06914034
chr1126965782696685E06915460
chr1126967012697222E06915583
chr1126973922697732E06916274
chr1126978912698008E06916773
chr1126980242698064E06916906
chr1126981772698259E06917059
chr1126984052698693E06917287
chr1127082502708462E06927132
chr1127085092708559E06927391
chr1127085692708670E06927451
chr1127087232708802E06927605
chr1127097462709863E06928628
chr1127099062709946E06928788
chr1127100152710069E06928897
chr1127101602710236E06929042
chr1127102502710300E06929132
chr1127103772710477E06929259
chr1127107502710813E06929632
chr1127108222711053E06929704
chr1127111182711349E06930000
chr1127113752711681E06930257
chr1127117852712001E06930667
chr1127120712712717E06930953
chr1127127522712890E06931634
chr1127128982713174E06931780
chr1127132552713309E06932137
chr1127133472713467E06932229
chr1127135722715673E06932454
chr1127157112715861E06934593
chr1127165502716638E06935432
chr1127166732716763E06935555
chr1127168902717060E06935772
chr1127171932717237E06936075
chr1127185082718552E06937390
chr1127228392722966E06941721
chr1127230762723167E06941958
chr1127234162723640E06942298
chr1127238082724441E06942690
chr1127127522712890E07031634
chr1127135722715673E07032454
chr1127157112715861E07034593
chr1126951522696534E07114034
chr1126965782696685E07115460
chr1126967012697222E07115583
chr1126973922697732E07116274
chr1126978912698008E07116773
chr1126980242698064E07116906
chr1126981772698259E07117059
chr1127074122707470E07126294
chr1127074752707546E07126357
chr1127077362707808E07126618
chr1127079852708025E07126867
chr1127080492708209E07126931
chr1127082502708462E07127132
chr1127085092708559E07127391
chr1127085692708670E07127451
chr1127087232708802E07127605
chr1127088572708990E07127739
chr1127090122709469E07127894
chr1127094912709603E07128373
chr1127097462709863E07128628
chr1127099062709946E07128788
chr1127108222711053E07129704
chr1127113752711681E07130257
chr1127117852712001E07130667
chr1127120712712717E07130953
chr1127127522712890E07131634
chr1127128982713174E07131780
chr1127132552713309E07132137
chr1127133472713467E07132229
chr1127135722715673E07132454
chr1127157112715861E07134593
chr1127158622716017E07134744
chr1127238082724441E07142690
chr1127244572725276E07143339
chr1126951522696534E07214034
chr1126965782696685E07215460
chr1126967012697222E07215583
chr1126973922697732E07216274
chr1126978912698008E07216773
chr1126980242698064E07216906
chr1126981772698259E07217059
chr1127077362707808E07226618
chr1127085692708670E07227451
chr1127087232708802E07227605
chr1127088572708990E07227739
chr1127090122709469E07227894
chr1127103772710477E07229259
chr1127107502710813E07229632
chr1127108222711053E07229704
chr1127117852712001E07230667
chr1127120712712717E07230953
chr1127127522712890E07231634
chr1127128982713174E07231780
chr1127132552713309E07232137
chr1127133472713467E07232229
chr1127135722715673E07232454
chr1127238082724441E07242690
chr1127244572725276E07243339
chr1127252812725392E07244163
chr1127254482725498E07244330
chr1127255532725627E07244435
chr1127257212725792E07244603
chr1127259092726946E07244791
chr1126951522696534E07314034
chr1126965782696685E07315460
chr1126967012697222E07315583
chr1126973922697732E07316274
chr1126978912698008E07316773
chr1127090122709469E07327894
chr1127094912709603E07328373
chr1127097462709863E07328628
chr1127099062709946E07328788
chr1127100152710069E07328897
chr1127101602710236E07329042
chr1127102502710300E07329132
chr1127103772710477E07329259
chr1127107502710813E07329632
chr1127108222711053E07329704
chr1127111182711349E07330000
chr1127113752711681E07330257
chr1127117852712001E07330667
chr1127120712712717E07330953
chr1127127522712890E07331634
chr1127128982713174E07331780
chr1127132552713309E07332137
chr1127133472713467E07332229
chr1127135722715673E07332454
chr1126945342694896E07413416
chr1126950332695117E07413915
chr1126951522696534E07414034
chr1126965782696685E07415460
chr1126967012697222E07415583
chr1126973922697732E07416274
chr1126978912698008E07416773
chr1126980242698064E07416906
chr1126981772698259E07417059
chr1126984052698693E07417287
chr1126987162698772E07417598
chr1127077362707808E07426618
chr1127079852708025E07426867
chr1127080492708209E07426931
chr1127082502708462E07427132
chr1127090122709469E07427894
chr1127094912709603E07428373
chr1127097462709863E07428628
chr1127099062709946E07428788
chr1127100152710069E07428897
chr1127101602710236E07429042
chr1127102502710300E07429132
chr1127103772710477E07429259
chr1127107502710813E07429632
chr1127108222711053E07429704
chr1127111182711349E07430000
chr1127113752711681E07430257
chr1127117852712001E07430667
chr1127120712712717E07430953
chr1127127522712890E07431634
chr1127128982713174E07431780
chr1127132552713309E07432137
chr1127133472713467E07432229
chr1127135722715673E07432454
chr1127157112715861E07434593
chr1127158622716017E07434744
chr1127163472716400E07435229
chr1127164722716522E07435354
chr1127165502716638E07435432
chr1127168902717060E07435772
chr1127234162723640E07442298
chr1127238082724441E07442690
chr1127244572725276E07443339
chr1127135722715673E08232454
chr1127165502716638E08235432
chr1127166732716763E08235555









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1127188852718961E06737767
chr1127189952719069E06737877
chr1127192082719409E06738090
chr1127195082720841E06738390
chr1127208482722814E06739730
chr1127195082720841E06838390
chr1127208482722814E06839730
chr1127192082719409E06938090
chr1127195082720841E06938390
chr1127208482722814E06939730
chr1127195082720841E07038390
chr1127208482722814E07039730
chr1127192082719409E07138090
chr1127195082720841E07138390
chr1127208482722814E07139730
chr1127186952718850E07237577
chr1127188852718961E07237767
chr1127189952719069E07237877
chr1127192082719409E07238090
chr1127195082720841E07238390
chr1127208482722814E07239730
chr1127195082720841E07338390
chr1127208482722814E07339730
chr1127195082720841E07438390
chr1127208482722814E07439730
chr1127192082719409E08138090
chr1127195082720841E08138390
chr1127192082719409E08238090
chr1127195082720841E08238390
chr1127208482722814E08239730