rs17128434

Homo sapiens
G>A
ATG14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0098 (2953/29978,GnomAD)
A=0143 (4177/29118,TOPMED)
A=0134 (671/5008,1000G)
A=0009 (35/3854,ALSPAC)
A=0008 (31/3708,TWINSUK)
chr14:55386810 (GRCh38.p7) (14q22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.55386810G>A
GRCh37.p13 chr 14NC_000014.8:g.55853528G>A

Gene: ATG14, autophagy related 14(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATG14 transcriptNM_014924.4:c.N/AIntron Variant
ATG14 transcript variant X1XM_011536563.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.631A=0.369
1000GenomesAmericanSub694G=0.950A=0.050
1000GenomesEast AsianSub1008G=0.950A=0.050
1000GenomesEuropeSub1006G=0.983A=0.017
1000GenomesGlobalStudy-wide5008G=0.866A=0.134
1000GenomesSouth AsianSub978G=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.991A=0.009
The Genome Aggregation DatabaseAfricanSub8722G=0.690A=0.310
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1618G=0.947A=0.053
The Genome Aggregation DatabaseEuropeSub18498G=0.992A=0.007
The Genome Aggregation DatabaseGlobalStudy-wide29978G=0.901A=0.098
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.856A=0.143
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.992A=0.008
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs171284340.000698nicotine dependence17158188

eQTL of rs17128434 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 rs17128434 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 )
chr145580735155807590E067-45938
chr145580778255807864E067-45664
chr145580791755807997E067-45531
chr145581085155810940E067-42588
chr145586537255865850E06711844
chr145586603455866210E06712506
chr145586625355866345E06712725
chr145586642155866471E06712893
chr145586647855866532E06712950
chr145586670955866919E06713181
chr145587137655871423E06717848
chr145581281155812917E068-40611
chr145581306655813127E068-40401
chr145586537255865850E06811844
chr145586603455866210E06812506
chr145586642155866471E06912893
chr145586647855866532E06912950
chr145586670955866919E06913181
chr145587936455879755E06925836
chr145586537255865850E07111844
chr145586603455866210E07112506
chr145586625355866345E07112725
chr145586642155866471E07112893
chr145586647855866532E07112950
chr145586670955866919E07113181
chr145581306655813127E072-40401
chr145581340255813470E072-40058
chr145581359555813647E072-39881
chr145581368855813792E072-39736
chr145581387655813946E072-39582
chr145581395455814006E072-39522
chr145581424455814309E072-39219
chr145586537255865850E07211844
chr145586603455866210E07412506
chr145586625355866345E07412725
chr145586642155866471E07412893
chr145586647855866532E07412950
chr145586670955866919E07413181
chr145581424455814309E082-39219







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145587763755879354E06724109
chr145587763755879354E06824109
chr145587763755879354E06924109
chr145587763755879354E07024109
chr145587763755879354E07124109
chr145587763755879354E07224109
chr145587763755879354E07324109
chr145587763755879354E07424109
chr145587763755879354E08124109
chr145587763755879354E08224109