rs11849247

Homo sapiens
T>C
KCNK10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0064 (1926/29994,GnomAD)
C=0094 (2762/29118,TOPMED)
C=0085 (424/5008,1000G)
C=0014 (55/3854,ALSPAC)
C=0015 (55/3708,TWINSUK)
chr14:88242159 (GRCh38.p7) (14q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
106 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.88242159T>C
GRCh37.p13 chr 14NC_000014.8:g.88708503T>C

Gene: KCNK10, potassium two pore domain channel subfamily K member 10(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNK10 transcript variant 1NM_021161.4:c.N/AIntron Variant
KCNK10 transcript variant 2NM_138317.2:c.N/AIntron Variant
KCNK10 transcript variant 3NM_138318.2:c.N/AIntron Variant
KCNK10 transcript variant X2XM_011536840.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.752C=0.248
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=0.946C=0.054
1000GenomesEuropeSub1006T=0.991C=0.009
1000GenomesGlobalStudy-wide5008T=0.915C=0.085
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.986C=0.014
The Genome Aggregation DatabaseAfricanSub8728T=0.815C=0.185
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1620T=0.965C=0.035
The Genome Aggregation DatabaseEuropeSub18506T=0.987C=0.012
The Genome Aggregation DatabaseGlobalStudy-wide29994T=0.935C=0.064
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.905C=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.985C=0.015
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs118492474.44E-06alcohol craving with or without dependence22481050

eQTL of rs11849247 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 rs11849247 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 )
chr148867626388676392E067-32111
chr148867655888676637E067-31866
chr148867675388676822E067-31681
chr148867685788676998E067-31505
chr148870901088709097E067507
chr148870928588709335E067782
chr148867626388676392E068-32111
chr148867655888676637E068-31866
chr148867675388676822E068-31681
chr148867685788676998E068-31505
chr148872367788724285E06815174
chr148866166088661710E069-46793
chr148866288588663428E069-45075
chr148867597988676029E069-32474
chr148867626388676392E069-32111
chr148867655888676637E069-31866
chr148867675388676822E069-31681
chr148867685788676998E069-31505
chr148872319888723289E06914695
chr148872332188723382E06914818
chr148872356588723637E06915062
chr148872367788724285E06915174
chr148872432288724630E06915819
chr148866097488661189E070-47314
chr148866125188661317E070-47186
chr148866166088661710E070-46793
chr148866288588663428E070-45075
chr148871904088719098E07010537
chr148871910888719242E07010605
chr148871924988719381E07010746
chr148872264288722766E07014139
chr148872367788724285E07015174
chr148872432288724630E07015819
chr148866288588663428E071-45075
chr148867597988676029E071-32474
chr148867626388676392E071-32111
chr148867655888676637E071-31866
chr148867675388676822E071-31681
chr148867685788676998E071-31505
chr148870901088709097E071507
chr148870928588709335E071782
chr148871017988710318E0711676
chr148872367788724285E07115174
chr148872432288724630E07115819
chr148873303788733087E07124534
chr148873339188733445E07124888
chr148873358188733635E07125078
chr148867626388676392E072-32111
chr148867655888676637E072-31866
chr148867675388676822E072-31681
chr148867685788676998E072-31505
chr148869215788692309E072-16194
chr148872367788724285E07215174
chr148875841388758463E07249910
chr148866288588663428E073-45075
chr148867597988676029E073-32474
chr148867626388676392E073-32111
chr148867655888676637E073-31866
chr148867675388676822E073-31681
chr148867685788676998E073-31505
chr148870901088709097E073507
chr148870928588709335E073782
chr148871037888710557E0731875
chr148866288588663428E074-45075
chr148867626388676392E074-32111
chr148867655888676637E074-31866
chr148867675388676822E074-31681
chr148867685788676998E074-31505
chr148867723188677275E074-31228
chr148870875488708988E074251
chr148870901088709097E074507
chr148870928588709335E074782
chr148870955288709602E0741049
chr148872356588723637E07415062
chr148872367788724285E07415174
chr148872432288724630E07415819
chr148866097488661189E081-47314
chr148866125188661317E081-47186
chr148866166088661710E081-46793
chr148866186388662788E081-45715
chr148866288588663428E081-45075
chr148867067188670686E081-37817
chr148867071688670830E081-37673
chr148867484188675034E081-33469
chr148867517588675237E081-33266
chr148867597988676029E081-32474
chr148867626388676392E081-32111
chr148867655888676637E081-31866
chr148869870588698864E081-9639
chr148865987788659931E082-48572
chr148866051988660597E082-47906
chr148866070688660756E082-47747
chr148866097488661189E082-47314
chr148866125188661317E082-47186
chr148866166088661710E082-46793
chr148866288588663428E082-45075
chr148866368888663738E082-44765
chr148866421788664294E082-44209
chr148866430788664375E082-44128
chr148867027088670320E082-38183
chr148867047688670527E082-37976
chr148867067188670686E082-37817
chr148867071688670830E082-37673
chr148867917188679260E082-29243
chr148868511288685167E082-23336
chr148872319888723289E08214695










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr148867546188675886E067-32617
chr148867546188675886E068-32617
chr148867546188675886E072-32617
chr148867546188675886E074-32617