rs13388308

Homo sapiens
C>T
ATF2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0248 (7322/29478,GnomAD)
T=0296 (8621/29118,TOPMED)
T=0256 (1281/5008,1000G)
T=0193 (744/3854,ALSPAC)
T=0182 (675/3708,TWINSUK)
chr2:175141299 (GRCh38.p7) (2q31.1)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.175141299C>T
GRCh37.p13 chr 2NC_000002.11:g.176006027C>T
ATF2 RefSeqGeneNG_047045.1:g.31908G>A

Gene: ATF2, activating transcription factor 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATF2 transcript variant 2NM_001256090.1:c.N/AIntron Variant
ATF2 transcript variant 3NM_001256091.1:c.N/AIntron Variant
ATF2 transcript variant 4NM_001256092.1:c.N/AIntron Variant
ATF2 transcript variant 5NM_001256093.1:c.N/AIntron Variant
ATF2 transcript variant 6NM_001256094.1:c.N/AIntron Variant
ATF2 transcript variant 1NM_001880.3:c.N/AIntron Variant
ATF2 transcript variant 7NR_045768.1:n.N/AIntron Variant
ATF2 transcript variant 8NR_045769.1:n.N/AIntron Variant
ATF2 transcript variant 9NR_045770.1:n.N/AIntron Variant
ATF2 transcript variant 10NR_045771.1:n.N/AIntron Variant
ATF2 transcript variant 11NR_045772.1:n.N/AIntron Variant
ATF2 transcript variant 12NR_045773.1:n.N/AIntron Variant
ATF2 transcript variant 13NR_045774.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.554T=0.446
1000GenomesAmericanSub694C=0.740T=0.260
1000GenomesEast AsianSub1008C=0.867T=0.133
1000GenomesEuropeSub1006C=0.792T=0.208
1000GenomesGlobalStudy-wide5008C=0.744T=0.256
1000GenomesSouth AsianSub978C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.807T=0.193
The Genome Aggregation DatabaseAfricanSub8574C=0.576T=0.424
The Genome Aggregation DatabaseAmericanSub804C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1612C=0.888T=0.112
The Genome Aggregation DatabaseEuropeSub18186C=0.822T=0.178
The Genome Aggregation DatabaseGlobalStudy-wide29478C=0.751T=0.248
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.703T=0.296
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.818T=0.182
PMID Title Author Journal
28073367No convincing association between genetic markers and respiratory symptoms: results of a GWA study.Zeng XRespir Res
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs133883080.00062alcohol consumption (maxi-drinks)24277619

eQTL of rs13388308 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:176006027ATP5G3ENSG00000154518.5C>T8.5565e-10-42915Cerebellum
Chr2:176006027ATP5G3ENSG00000154518.5C>T4.1341e-5-42915Cortex

meQTL of rs13388308 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 )
chr2176021236176021405E06915209
chr2176021441176021589E06915414
chr2176034195176034235E06928168
chr2176034195176034235E07428168


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2176031768176031808E06725741
chr2176031835176033672E06725808
chr2176045446176046897E06739419
chr2176031417176031582E06825390
chr2176031768176031808E06825741
chr2176031835176033672E06825808
chr2176033683176033827E06827656
chr2176045446176046897E06839419
chr2176031417176031582E06925390
chr2176031768176031808E06925741
chr2176031835176033672E06925808
chr2176033683176033827E06927656
chr2176045446176046897E06939419
chr2176031417176031582E07025390
chr2176031768176031808E07025741
chr2176031835176033672E07025808
chr2176033683176033827E07027656
chr2176045446176046897E07039419
chr2176031350176031395E07125323
chr2176031417176031582E07125390
chr2176031768176031808E07125741
chr2176031835176033672E07125808
chr2176033683176033827E07127656
chr2176045446176046897E07139419
chr2176031417176031582E07225390
chr2176031768176031808E07225741
chr2176031835176033672E07225808
chr2176033683176033827E07227656
chr2176045446176046897E07239419
chr2176031350176031395E07325323
chr2176031417176031582E07325390
chr2176031768176031808E07325741
chr2176031835176033672E07325808
chr2176033683176033827E07327656
chr2176045446176046897E07339419
chr2176031768176031808E07425741
chr2176031835176033672E07425808
chr2176045446176046897E07439419
chr2176031417176031582E08125390
chr2176031768176031808E08125741
chr2176031835176033672E08125808
chr2176033683176033827E08127656
chr2176045446176046897E08139419
chr2176030929176031083E08224902
chr2176031350176031395E08225323
chr2176031417176031582E08225390
chr2176031768176031808E08225741
chr2176031835176033672E08225808
chr2176033683176033827E08227656
chr2176045446176046897E08239419