rs1057302

Homo sapiens
A>G
KIAA0040 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0390 (11677/29926,GnomAD)
G=0339 (9891/29118,TOPMED)
G=0269 (1346/5008,1000G)
G=0463 (1785/3854,ALSPAC)
G=0485 (1798/3708,TWINSUK)
chr1:175157287 (GRCh38.p7) (1q25.1)
AD
GWASdb2
4   publication(s)
See rs on genome
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.175157287A>G
GRCh37.p13 chr 1NC_000001.10:g.175126423A>G

Gene: KIAA0040, KIAA0040(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KIAA0040 transcript variant 2NM_014656.2:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant 1NM_001162893.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant 3NM_001162894.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant 4NM_001162895.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant 6NM_001319231.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant 5NM_001319230.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant X1XM_017002909.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant X2XM_017002910.1:c.N/A3 Prime UTR Variant
KIAA0040 transcript variant X3XM_017002911.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.746G=0.254
1000GenomesAmericanSub694A=0.700G=0.300
1000GenomesEast AsianSub1008A=0.899G=0.101
1000GenomesEuropeSub1006A=0.554G=0.446
1000GenomesGlobalStudy-wide5008A=0.731G=0.269
1000GenomesSouth AsianSub978A=0.740G=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.537G=0.463
The Genome Aggregation DatabaseAfricanSub8700A=0.718G=0.282
The Genome Aggregation DatabaseAmericanSub834A=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1618A=0.891G=0.109
The Genome Aggregation DatabaseEuropeSub18474A=0.526G=0.473
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.609G=0.390
The Genome Aggregation DatabaseOtherSub300A=0.700G=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.660G=0.339
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.515G=0.485
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
23365539Large scale association analysis for drug addiction: results from SNP to gene.Guo XScientificWorldJournal
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs10573020.000000512alcohol dependence21703634
rs10573020.00000194alcohol dependence20202923
rs10573020.00062alcohol dependence21956439

eQTL of rs1057302 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 rs1057302 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 )
chr1175127262175127638E067839
chr1175127726175127793E0671303
chr1175121212175121706E069-4717
chr1175138495175138718E06912072
chr1175117508175117593E070-8830
chr1175131566175131616E0705143
chr1175131702175131793E0705279
chr1175131845175132044E0705422
chr1175132208175132358E0705785
chr1175169465175169525E07143042
chr1175169774175170871E07143351
chr1175121212175121706E072-4717
chr1175173548175173704E07347125
chr1175173714175173889E07347291
chr1175115170175115364E081-11059
chr1175115429175115500E081-10923
chr1175115737175116333E081-10090
chr1175116438175116534E081-9889
chr1175116763175117071E081-9352
chr1175117325175117401E081-9022
chr1175117508175117593E081-8830
chr1175120951175121040E081-5383
chr1175121212175121706E081-4717
chr1175127262175127638E082839
chr1175127726175127793E0821303
chr1175173548175173704E08247125
chr1175173714175173889E08247291








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1175160861175163201E06734438
chr1175160861175163201E06834438
chr1175160861175163201E06934438
chr1175160861175163201E07134438
chr1175160861175163201E07234438
chr1175160861175163201E07334438
chr1175160861175163201E07434438
chr1175160861175163201E08234438