rs328026

Homo sapiens
C>T
GACAT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0457 (13675/29916,GnomAD)
C==0472 (13757/29116,TOPMED)
C==0434 (2173/5008,1000G)
T=0280 (1079/3854,ALSPAC)
T=0285 (1058/3708,TWINSUK)
chr2:107764075 (GRCh38.p7) (2q12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.107764075C>T
GRCh37.p13 chr 2NC_000002.11:g.108380531C>T

Gene: GACAT1, gastric cancer associated transcript 1 (non-protein coding)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GACAT1 transcript variant 1NR_126369.1:n.N/AIntron Variant
GACAT1 transcript variant 2NR_126370.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.117T=0.883
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.349T=0.651
1000GenomesEuropeSub1006C=0.706T=0.294
1000GenomesGlobalStudy-wide5008C=0.434T=0.566
1000GenomesSouth AsianSub978C=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.720T=0.280
The Genome Aggregation DatabaseAfricanSub8712C=0.200T=0.800
The Genome Aggregation DatabaseAmericanSub834C=0.600T=0.400
The Genome Aggregation DatabaseEast AsianSub1612C=0.349T=0.651
The Genome Aggregation DatabaseEuropeSub18458C=0.718T=0.281
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.542T=0.457
The Genome Aggregation DatabaseOtherSub300C=0.610T=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.472T=0.527
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.715T=0.285
PMID Title Author Journal
22488850Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs3280265.6E-06alcohol and nictotine co-dependence22488850

eQTL of rs328026 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 rs328026 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 )
chr2108424641108424757E06944110
chr2108424847108424897E06944316
chr2108425132108425837E06944601
chr2108336363108336678E070-43853
chr2108392875108393140E07012344
chr2108393176108393311E07012645
chr2108424221108424271E07143690
chr2108424455108424604E07143924
chr2108424641108424757E07144110
chr2108425132108425837E07144601
chr2108423385108423685E08142854
chr2108424074108424131E08143543
chr2108424221108424271E08143690
chr2108424455108424604E08143924
chr2108424641108424757E08144110
chr2108424847108424897E08144316
chr2108425132108425837E08144601
chr2108426263108426350E08145732
chr2108426419108426562E08145888
chr2108427343108427429E08146812
chr2108427701108427860E08147170
chr2108427980108428316E08147449
chr2108428543108428959E08148012
chr2108429275108429404E08148744
chr2108429495108429839E08148964
chr2108392327108392537E08211796
chr2108424074108424131E08243543
chr2108424221108424271E08243690
chr2108424455108424604E08243924
chr2108424641108424757E08244110
chr2108426419108426562E08245888
chr2108427343108427429E08246812
chr2108427701108427860E08247170
chr2108427980108428316E08247449
chr2108428543108428959E08248012