rs12513327

Homo sapiens
G>A
KLHL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0087 (2609/29970,GnomAD)
A=0086 (2504/29118,TOPMED)
A=0070 (352/5008,1000G)
A=0065 (251/3854,ALSPAC)
A=0067 (247/3708,TWINSUK)
chr4:165224668 (GRCh38.p7) (4q32.3)
ND
GWASdb2
1   publication(s)
See rs on genome
123 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165224668G>A
GRCh37.p13 chr 4NC_000004.11:g.166145820G>A

Gene: KLHL2, kelch like family member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KLHL2 transcript variant 2NM_001161521.1:c.N/AIntron Variant
KLHL2 transcript variant 3NM_001161522.1:c.N/AIntron Variant
KLHL2 transcript variant 1NM_007246.3:c.N/AIntron Variant
KLHL2 transcript variant X3XM_011531572.2:c.N/AIntron Variant
KLHL2 transcript variant X7XM_011531575.2:c.N/AIntron Variant
KLHL2 transcript variant X8XM_011531576.2:c.N/AIntron Variant
KLHL2 transcript variant X6XM_017007674.1:c.N/AIntron Variant
KLHL2 transcript variant X5XM_017007675.1:c.N/AIntron Variant
KLHL2 transcript variant X8XM_017007676.1:c.N/AIntron Variant
KLHL2 transcript variant X9XM_017007677.1:c.N/AIntron Variant
KLHL2 transcript variant X2XR_001741101.1:n.N/AIntron Variant
KLHL2 transcript variant X5XR_001741102.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.906A=0.094
1000GenomesAmericanSub694G=0.940A=0.060
1000GenomesEast AsianSub1008G=0.946A=0.054
1000GenomesEuropeSub1006G=0.926A=0.074
1000GenomesGlobalStudy-wide5008G=0.930A=0.070
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.935A=0.065
The Genome Aggregation DatabaseAfricanSub8726G=0.912A=0.088
The Genome Aggregation DatabaseAmericanSub838G=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1618G=0.955A=0.045
The Genome Aggregation DatabaseEuropeSub18486G=0.910A=0.090
The Genome Aggregation DatabaseGlobalStudy-wide29970G=0.912A=0.087
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.914A=0.086
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.933A=0.067
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
rs125133271.65E-05alcohol and nictotine co-dependence20158304

eQTL of rs12513327 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 rs12513327 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 )
chr4166131909166132015E067-13805
chr4166132185166132237E067-13583
chr4166135327166135418E067-10402
chr4166135664166135727E067-10093
chr4166135783166135871E067-9949
chr4166142622166142701E067-3119
chr4166142909166143026E067-2794
chr4166143293166143422E067-2398
chr4166143572166144082E067-1738
chr4166144371166144421E067-1399
chr4166144451166144527E067-1293
chr4166175113166175282E06729293
chr4166176074166176139E06730254
chr4166176493166176568E06730673
chr4166176634166176825E06730814
chr4166176872166176934E06731052
chr4166176957166177167E06731137
chr4166125327166125559E068-20261
chr4166125629166125917E068-19903
chr4166135327166135418E068-10402
chr4166135664166135727E068-10093
chr4166135783166135871E068-9949
chr4166138149166138256E068-7564
chr4166142622166142701E068-3119
chr4166142909166143026E068-2794
chr4166143293166143422E068-2398
chr4166143572166144082E068-1738
chr4166144371166144421E068-1399
chr4166144451166144527E068-1293
chr4166175113166175282E06829293
chr4166176074166176139E06830254
chr4166176493166176568E06830673
chr4166178432166178740E06832612
chr4166178791166178841E06832971
chr4166131909166132015E069-13805
chr4166135327166135418E069-10402
chr4166135664166135727E069-10093
chr4166135783166135871E069-9949
chr4166136609166136748E069-9072
chr4166143572166144082E069-1738
chr4166159234166159642E06913414
chr4166175113166175282E06929293
chr4166176493166176568E06930673
chr4166176634166176825E06930814
chr4166177462166177542E06931642
chr4166178108166178158E06932288
chr4166178432166178740E06932612
chr4166178791166178841E06932971
chr4166131909166132015E070-13805
chr4166135327166135418E070-10402
chr4166135664166135727E070-10093
chr4166135783166135871E070-9949
chr4166177462166177542E07031642
chr4166131909166132015E071-13805
chr4166132185166132237E071-13583
chr4166135327166135418E071-10402
chr4166136609166136748E071-9072
chr4166137225166137340E071-8480
chr4166142622166142701E071-3119
chr4166142909166143026E071-2794
chr4166143293166143422E071-2398
chr4166143572166144082E071-1738
chr4166176074166176139E07130254
chr4166176493166176568E07130673
chr4166176634166176825E07130814
chr4166177462166177542E07131642
chr4166177681166177781E07131861
chr4166178108166178158E07132288
chr4166178432166178740E07132612
chr4166178791166178841E07132971
chr4166115274166115324E072-30496
chr4166131909166132015E072-13805
chr4166132185166132237E072-13583
chr4166132891166132931E072-12889
chr4166142622166142701E072-3119
chr4166142909166143026E072-2794
chr4166143293166143422E072-2398
chr4166143572166144082E072-1738
chr4166144371166144421E072-1399
chr4166144451166144527E072-1293
chr4166159234166159642E07213414
chr4166170418166170625E07224598
chr4166176493166176568E07230673
chr4166176634166176825E07230814
chr4166176957166177167E07231137
chr4166177213166177401E07231393
chr4166131909166132015E073-13805
chr4166132185166132237E073-13583
chr4166142622166142701E073-3119
chr4166142909166143026E073-2794
chr4166143293166143422E073-2398
chr4166143572166144082E073-1738
chr4166159234166159642E07313414
chr4166177213166177401E07331393
chr4166130794166130862E074-14958
chr4166131033166131172E074-14648
chr4166131909166132015E074-13805
chr4166132185166132237E074-13583
chr4166134673166134849E074-10971
chr4166135327166135418E074-10402
chr4166135664166135727E074-10093
chr4166135783166135871E074-9949
chr4166138149166138256E074-7564
chr4166138732166138782E074-7038
chr4166142622166142701E074-3119
chr4166142909166143026E074-2794
chr4166143293166143422E074-2398
chr4166143572166144082E074-1738
chr4166144371166144421E074-1399
chr4166144451166144527E074-1293
chr4166159234166159642E07413414
chr4166176074166176139E07430254
chr4166176493166176568E07430673
chr4166176634166176825E07430814
chr4166176872166176934E07431052
chr4166176957166177167E07431137
chr4166177213166177401E07431393
chr4166178432166178740E07432612
chr4166130500166130617E081-15203
chr4166130794166130862E081-14958
chr4166131033166131172E081-14648
chr4166131909166132015E082-13805
chr4166132185166132237E082-13583










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4166127755166129701E067-16119
chr4166129817166130149E067-15671
chr4166127755166129701E068-16119
chr4166129817166130149E068-15671
chr4166127755166129701E069-16119
chr4166129817166130149E069-15671
chr4166127755166129701E070-16119
chr4166129817166130149E070-15671
chr4166127755166129701E071-16119
chr4166129817166130149E071-15671
chr4166127755166129701E072-16119
chr4166129817166130149E072-15671
chr4166127755166129701E073-16119
chr4166129817166130149E073-15671
chr4166127755166129701E074-16119
chr4166129817166130149E074-15671
chr4166127755166129701E081-16119
chr4166129817166130149E081-15671
chr4166127755166129701E082-16119
chr4166129817166130149E082-15671