rs11134638

Homo sapiens
A>G
KCNIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0328 (9832/29890,GnomAD)
G=0265 (7730/29118,TOPMED)
G=0285 (1425/5008,1000G)
G=0400 (1542/3854,ALSPAC)
G=0414 (1535/3708,TWINSUK)
chr5:170580499 (GRCh38.p7) (5q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
227 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.170580499A>G
GRCh37.p13 chr 5NC_000005.9:g.170007503A>G
KCNIP1 RefSeqGeneNG_011538.1:g.231623A>G

Gene: KCNIP1, potassium voltage-gated channel interacting protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNIP1 transcript variant 1NM_001034837.2:c.N/AIntron Variant
KCNIP1 transcript variant 3NM_001034838.2:c.N/AIntron Variant
KCNIP1 transcript variant 5NM_001278339.1:c.N/AIntron Variant
KCNIP1 transcript variant 4NM_001278340.1:c.N/AIntron Variant
KCNIP1 transcript variant 2NM_014592.3:c.N/AIntron Variant
KCNIP1 transcript variant X1XM_017009407.1:c.N/AIntron Variant
KCNIP1 transcript variant X2XM_017009408.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.952G=0.048
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.723G=0.277
1000GenomesEuropeSub1006A=0.608G=0.392
1000GenomesGlobalStudy-wide5008A=0.715G=0.285
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.600G=0.400
The Genome Aggregation DatabaseAfricanSub8704A=0.904G=0.096
The Genome Aggregation DatabaseAmericanSub836A=0.530G=0.470
The Genome Aggregation DatabaseEast AsianSub1618A=0.740G=0.260
The Genome Aggregation DatabaseEuropeSub18432A=0.562G=0.437
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.671G=0.328
The Genome Aggregation DatabaseOtherSub300A=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.734G=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.586G=0.414
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
rs111346380.000459alcohol dependence20201924

eQTL of rs11134638 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 rs11134638 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 )
chr5169964194169964244E067-43259
chr5169964813169965104E067-42399
chr5169965138169965411E067-42092
chr5169965594169965647E067-41856
chr5169979191169979313E067-28190
chr5169979344169979384E067-28119
chr5169979438169979567E067-27936
chr5169979572169980257E067-27246
chr5169980379169980435E067-27068
chr5169980490169980569E067-26934
chr5169980657169980879E067-26624
chr5169992061169992326E067-15177
chr5169992393169992443E067-15060
chr5169992444169992498E067-15005
chr5170011419170011499E0673916
chr5170011562170011682E0674059
chr5170011786170011910E0674283
chr5170023713170023772E06716210
chr5170023793170023956E06716290
chr5170024084170024759E06716581
chr5170024911170025153E06717408
chr5170025354170025404E06717851
chr5169964813169965104E068-42399
chr5169965138169965411E068-42092
chr5169965594169965647E068-41856
chr5169970009169970142E068-37361
chr5169979191169979313E068-28190
chr5169979344169979384E068-28119
chr5169979438169979567E068-27936
chr5169979572169980257E068-27246
chr5169980379169980435E068-27068
chr5169980490169980569E068-26934
chr5169980657169980879E068-26624
chr5169981350169982228E068-25275
chr5169989316169989433E068-18070
chr5169989592169989837E068-17666
chr5169990986169991080E068-16423
chr5169992061169992326E068-15177
chr5169992393169992443E068-15060
chr5169992444169992498E068-15005
chr5169998157169998280E068-9223
chr5169998355169998707E068-8796
chr5170011786170011910E0684283
chr5170023309170023361E06815806
chr5170023713170023772E06816210
chr5170023793170023956E06816290
chr5170024084170024759E06816581
chr5170024911170025153E06817408
chr5170025354170025404E06817851
chr5170025620170026100E06818117
chr5170044511170044707E06837008
chr5169964194169964244E069-43259
chr5169964813169965104E069-42399
chr5169965138169965411E069-42092
chr5169979438169979567E069-27936
chr5169979572169980257E069-27246
chr5169980379169980435E069-27068
chr5169980490169980569E069-26934
chr5169989316169989433E069-18070
chr5169989592169989837E069-17666
chr5169992061169992326E069-15177
chr5169992393169992443E069-15060
chr5169992444169992498E069-15005
chr5170011786170011910E0694283
chr5170023713170023772E06916210
chr5170023793170023956E06916290
chr5170024084170024759E06916581
chr5170024911170025153E06917408
chr5170025354170025404E06917851
chr5169979438169979567E070-27936
chr5169979572169980257E070-27246
chr5169980379169980435E070-27068
chr5169980490169980569E070-26934
chr5169981350169982228E070-25275
chr5169983647169983733E070-23770
chr5169988191169988258E070-19245
chr5169988387169988473E070-19030
chr5169989316169989433E070-18070
chr5169989592169989837E070-17666
chr5169990986169991080E070-16423
chr5169992061169992326E070-15177
chr5169992393169992443E070-15060
chr5169993574169993624E070-13879
chr5169997050169997090E070-10413
chr5169997626169997696E070-9807
chr5169998157169998280E070-9223
chr5169998355169998707E070-8796
chr5169998988169999260E070-8243
chr5170024084170024759E07016581
chr5170024911170025153E07017408
chr5170025354170025404E07017851
chr5170025620170026100E07018117
chr5170026359170026443E07018856
chr5170039009170039226E07031506
chr5170039228170039806E07031725
chr5170040930170041502E07033427
chr5170041706170042080E07034203
chr5170044511170044707E07037008
chr5170044838170044971E07037335
chr5170045015170045411E07037512
chr5169963718169963872E071-43631
chr5169964194169964244E071-43259
chr5169964813169965104E071-42399
chr5169965138169965411E071-42092
chr5169965594169965647E071-41856
chr5169970009169970142E071-37361
chr5169979438169979567E071-27936
chr5169979572169980257E071-27246
chr5169980379169980435E071-27068
chr5169980490169980569E071-26934
chr5169980657169980879E071-26624
chr5169989316169989433E071-18070
chr5169989592169989837E071-17666
chr5169992061169992326E071-15177
chr5169992393169992443E071-15060
chr5169992444169992498E071-15005
chr5169997626169997696E071-9807
chr5169998157169998280E071-9223
chr5169998355169998707E071-8796
chr5169998988169999260E071-8243
chr5169999455169999793E071-7710
chr5170001971170002087E071-5416
chr5170011562170011682E0714059
chr5170011786170011910E0714283
chr5170023309170023361E07115806
chr5170023713170023772E07116210
chr5170023793170023956E07116290
chr5170025354170025404E07117851
chr5170025620170026100E07118117
chr5170044511170044707E07137008
chr5169964813169965104E072-42399
chr5169965138169965411E072-42092
chr5169965594169965647E072-41856
chr5169979572169980257E072-27246
chr5169980379169980435E072-27068
chr5169980490169980569E072-26934
chr5169980657169980879E072-26624
chr5169988387169988473E072-19030
chr5169989592169989837E072-17666
chr5169992061169992326E072-15177
chr5169992393169992443E072-15060
chr5169992444169992498E072-15005
chr5169997626169997696E072-9807
chr5169998157169998280E072-9223
chr5170011419170011499E0723916
chr5170011562170011682E0724059
chr5170011786170011910E0724283
chr5170023309170023361E07215806
chr5170023713170023772E07216210
chr5170023793170023956E07216290
chr5170024084170024759E07216581
chr5170024911170025153E07217408
chr5170044511170044707E07237008
chr5170045015170045411E07237512
chr5169963718169963872E073-43631
chr5169964194169964244E073-43259
chr5169964813169965104E073-42399
chr5169965138169965411E073-42092
chr5169965594169965647E073-41856
chr5169979438169979567E073-27936
chr5169979572169980257E073-27246
chr5169980379169980435E073-27068
chr5169980490169980569E073-26934
chr5169980657169980879E073-26624
chr5169989316169989433E073-18070
chr5169989592169989837E073-17666
chr5169997626169997696E073-9807
chr5169998988169999260E073-8243
chr5169999455169999793E073-7710
chr5170000110170000174E073-7329
chr5170011419170011499E0733916
chr5170011562170011682E0734059
chr5170011786170011910E0734283
chr5170023713170023772E07316210
chr5170023793170023956E07316290
chr5170024084170024759E07316581
chr5170024911170025153E07317408
chr5170025354170025404E07317851
chr5169964813169965104E074-42399
chr5169965138169965411E074-42092
chr5169965594169965647E074-41856
chr5169979438169979567E074-27936
chr5169979572169980257E074-27246
chr5169980379169980435E074-27068
chr5169980490169980569E074-26934
chr5169980657169980879E074-26624
chr5169989316169989433E074-18070
chr5169989592169989837E074-17666
chr5169992061169992326E074-15177
chr5169992393169992443E074-15060
chr5169992444169992498E074-15005
chr5170000110170000174E074-7329
chr5170023713170023772E07416210
chr5170023793170023956E07416290
chr5170024084170024759E07416581
chr5170025620170026100E07418117
chr5170026359170026443E07418856
chr5169979191169979313E081-28190
chr5169979344169979384E081-28119
chr5169979438169979567E081-27936
chr5169979572169980257E081-27246
chr5169980379169980435E081-27068
chr5169980490169980569E081-26934
chr5169980657169980879E081-26624
chr5169981350169982228E081-25275
chr5169998988169999260E081-8243
chr5170000110170000174E081-7329
chr5170004061170004534E081-2969
chr5170004555170004736E081-2767
chr5170024084170024759E08116581
chr5170024911170025153E08117408
chr5170025354170025404E08117851
chr5170025620170026100E08118117
chr5170029900170029965E08122397
chr5170030159170030434E08122656
chr5170030465170030530E08122962
chr5170030958170031440E08123455
chr5169979572169980257E082-27246
chr5169981350169982228E082-25275
chr5169997626169997696E082-9807
chr5169998157169998280E082-9223
chr5170004061170004534E082-2969
chr5170004555170004736E082-2767
chr5170024084170024759E08216581
chr5170024911170025153E08217408
chr5170025354170025404E08217851
chr5170031722170031776E08224219