rs12188645

Homo sapiens
C>T
ATP10B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0110 (3298/29908,GnomAD)
T=0106 (3086/29118,TOPMED)
T=0108 (543/5008,1000G)
T=0146 (562/3854,ALSPAC)
T=0146 (543/3708,TWINSUK)
chr5:160869226 (GRCh38.p7) (5q34)
ND
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
46 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.160869226C>T
GRCh37.p13 chr 5NC_000005.9:g.160296233C>T

Gene: ATP10B, ATPase phospholipid transporting 10B (putative)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATP10B transcriptNM_025153.2:c.N/AGenic Upstream Transcript Variant
ATP10B transcript variant X2XM_011534468.2:c.N/AIntron Variant
ATP10B transcript variant X4XM_017009252.1:c.N/AIntron Variant
ATP10B transcript variant X1XM_006714833.2:c.N/AGenic Upstream Transcript Variant
ATP10B transcript variant X3XM_011534469.1:c.N/AGenic Upstream Transcript Variant
ATP10B transcript variant X5XM_011534472.2:c.N/AGenic Upstream Transcript Variant
ATP10B transcript variant X6XM_017009253.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.980T=0.020
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.804T=0.196
1000GenomesEuropeSub1006C=0.860T=0.140
1000GenomesGlobalStudy-wide5008C=0.892T=0.108
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.854T=0.146
The Genome Aggregation DatabaseAfricanSub8722C=0.961T=0.039
The Genome Aggregation DatabaseAmericanSub838C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1598C=0.813T=0.187
The Genome Aggregation DatabaseEuropeSub18448C=0.864T=0.135
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.889T=0.110
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.894T=0.106
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.854T=0.146
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
rs121886454.42E-05alcohol and nictotine co-dependence20158304

eQTL of rs12188645 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 rs12188645 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 )
chr5160273777160273875E067-22358
chr5160280116160280271E067-15962
chr5160311993160312075E06715760
chr5160312295160312464E06716062
chr5160258742160259115E068-37118
chr5160264909160265052E068-31181
chr5160265256160265357E068-30876
chr5160280116160280271E068-15962
chr5160312295160312464E06816062
chr5160273777160273875E069-22358
chr5160280116160280271E069-15962
chr5160311993160312075E07015760
chr5160312295160312464E07016062
chr5160273777160273875E071-22358
chr5160280116160280271E071-15962
chr5160311993160312075E07115760
chr5160312295160312464E07116062
chr5160280116160280271E072-15962
chr5160273777160273875E074-22358
chr5160311993160312075E07415760
chr5160312295160312464E07416062
chr5160331021160331117E08134788
chr5160331251160331339E08135018
chr5160331461160331963E08135228
chr5160332240160332357E08136007
chr5160332426160332563E08136193
chr5160342899160343099E08146666
chr5160331021160331117E08234788
chr5160331251160331339E08235018









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5160275956160276150E067-20083
chr5160276416160276466E067-19767
chr5160276611160276717E067-19516
chr5160277368160277719E067-18514
chr5160278119160278176E067-18057
chr5160278474160278835E067-17398
chr5160278949160279541E067-16692
chr5160275956160276150E068-20083
chr5160276416160276466E068-19767
chr5160277368160277719E068-18514
chr5160278119160278176E068-18057
chr5160278474160278835E068-17398
chr5160278949160279541E068-16692
chr5160275956160276150E069-20083
chr5160276416160276466E069-19767
chr5160276611160276717E069-19516
chr5160277368160277719E069-18514
chr5160278119160278176E069-18057
chr5160278474160278835E069-17398
chr5160278949160279541E069-16692
chr5160275956160276150E071-20083
chr5160276416160276466E071-19767
chr5160276611160276717E071-19516
chr5160277368160277719E071-18514
chr5160278119160278176E071-18057
chr5160278474160278835E071-17398
chr5160278949160279541E071-16692
chr5160275956160276150E072-20083
chr5160276416160276466E072-19767
chr5160276611160276717E072-19516
chr5160277368160277719E072-18514
chr5160278119160278176E072-18057
chr5160278474160278835E072-17398
chr5160278949160279541E072-16692
chr5160276416160276466E073-19767
chr5160276611160276717E073-19516
chr5160277368160277719E073-18514
chr5160278119160278176E073-18057
chr5160278474160278835E073-17398
chr5160275956160276150E074-20083
chr5160276416160276466E074-19767
chr5160276611160276717E074-19516
chr5160277368160277719E074-18514
chr5160278119160278176E074-18057
chr5160278474160278835E074-17398
chr5160278949160279541E074-16692