rs272146

Homo sapiens
C>A
POTEI : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0274 (8211/29924,GnomAD)
A=0375 (10919/29118,TOPMED)
A=0412 (2061/5008,1000G)
A=0110 (423/3854,ALSPAC)
A=0102 (380/3708,TWINSUK)
chr2:130780160 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
113 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.130780160C>A
GRCh37.p13 chr 2NC_000002.11:g.131537733C>A

Gene: POTEI, POTE ankyrin domain family member I(minus strand)

Molecule type Change Amino acid[Codon] SO Term
POTEI transcriptNM_001277406.1:c.N/AGenic Upstream Transcript Variant
POTEI transcript variant X5XM_017004735.1:c.N/AIntron Variant
POTEI transcript variant X1XM_011511670.2:c.N/AGenic Upstream Transcript Variant
POTEI transcript variant X2XM_017004732.1:c.N/AGenic Upstream Transcript Variant
POTEI transcript variant X4XM_017004733.1:c.N/AGenic Upstream Transcript Variant
POTEI transcript variant X4XM_017004734.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.256A=0.744
1000GenomesAmericanSub694C=0.800A=0.200
1000GenomesEast AsianSub1008C=0.584A=0.416
1000GenomesEuropeSub1006C=0.877A=0.123
1000GenomesGlobalStudy-wide5008C=0.588A=0.412
1000GenomesSouth AsianSub978C=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.890A=0.110
The Genome Aggregation DatabaseAfricanSub8688C=0.334A=0.666
The Genome Aggregation DatabaseAmericanSub838C=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1614C=0.590A=0.410
The Genome Aggregation DatabaseEuropeSub18482C=0.914A=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.725A=0.274
The Genome Aggregation DatabaseOtherSub302C=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.625A=0.375
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.898A=0.102
PMID Title Author Journal
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
rs2721460.000773alcohol dependence24277619

eQTL of rs272146 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 rs272146 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 )
chr2131576515131576700E06738782
chr2131577152131577243E06739419
chr2131577268131577769E06739535
chr2131577865131578316E06740132
chr2131581672131581790E06743939
chr2131581847131581915E06744114
chr2131581956131582541E06744223
chr2131582937131583210E06745204
chr2131583336131583515E06745603
chr2131548535131548589E06810802
chr2131549075131549347E06811342
chr2131556724131556847E06818991
chr2131556929131556979E06819196
chr2131571173131571223E06833440
chr2131571495131571563E06833762
chr2131576515131576700E06838782
chr2131577152131577243E06839419
chr2131577268131577769E06839535
chr2131577865131578316E06840132
chr2131580769131580819E06843036
chr2131580868131580918E06843135
chr2131581672131581790E06843939
chr2131581847131581915E06844114
chr2131581956131582541E06844223
chr2131582937131583210E06845204
chr2131583336131583515E06845603
chr2131517637131517806E069-19927
chr2131556724131556847E06918991
chr2131556929131556979E06919196
chr2131577152131577243E06939419
chr2131577268131577769E06939535
chr2131577865131578316E06940132
chr2131580769131580819E06943036
chr2131580868131580918E06943135
chr2131581672131581790E06943939
chr2131581847131581915E06944114
chr2131582937131583210E06945204
chr2131583336131583515E06945603
chr2131517637131517806E070-19927
chr2131577152131577243E07039419
chr2131577268131577769E07039535
chr2131577865131578316E07040132
chr2131581672131581790E07043939
chr2131581847131581915E07044114
chr2131581956131582541E07044223
chr2131582937131583210E07045204
chr2131583336131583515E07045603
chr2131584714131584775E07046981
chr2131556724131556847E07118991
chr2131576515131576700E07138782
chr2131577152131577243E07139419
chr2131577268131577769E07139535
chr2131580769131580819E07143036
chr2131580868131580918E07143135
chr2131581672131581790E07143939
chr2131581847131581915E07144114
chr2131581956131582541E07144223
chr2131582937131583210E07145204
chr2131583336131583515E07145603
chr2131518370131518517E072-19216
chr2131548535131548589E07210802
chr2131556724131556847E07218991
chr2131556929131556979E07219196
chr2131564908131565992E07227175
chr2131576515131576700E07238782
chr2131577152131577243E07239419
chr2131581672131581790E07243939
chr2131581847131581915E07244114
chr2131581956131582541E07244223
chr2131582937131583210E07245204
chr2131583336131583515E07245603
chr2131517637131517806E073-19927
chr2131518370131518517E073-19216
chr2131556724131556847E07318991
chr2131556929131556979E07319196
chr2131576515131576700E07338782
chr2131577152131577243E07339419
chr2131577268131577769E07339535
chr2131577865131578316E07340132
chr2131580769131580819E07343036
chr2131580868131580918E07343135
chr2131581672131581790E07343939
chr2131581847131581915E07344114
chr2131581956131582541E07344223
chr2131582937131583210E07345204
chr2131583336131583515E07345603
chr2131584714131584775E07346981
chr2131556724131556847E07418991
chr2131576515131576700E07438782
chr2131577152131577243E07439419
chr2131577268131577769E07439535
chr2131577865131578316E07440132
chr2131580769131580819E07443036
chr2131580868131580918E07443135
chr2131581672131581790E07443939
chr2131581847131581915E07444114
chr2131581956131582541E07444223
chr2131582937131583210E07445204
chr2131583336131583515E07445603
chr2131585045131585760E07447312
chr2131556724131556847E08118991
chr2131577268131577769E08139535
chr2131577865131578316E08140132
chr2131581956131582541E08144223
chr2131582937131583210E08145204
chr2131583336131583515E08145603
chr2131577152131577243E08239419
chr2131577268131577769E08239535
chr2131577865131578316E08240132
chr2131581672131581790E08243939
chr2131581847131581915E08244114
chr2131581956131582541E08244223
chr2131582937131583210E08245204










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2131512777131512999E067-24734
chr2131513002131514225E067-23508
chr2131514267131514572E067-23161
chr2131554929131556355E06717196
chr2131513002131514225E068-23508
chr2131514267131514572E068-23161
chr2131554929131556355E06817196
chr2131512777131512999E069-24734
chr2131513002131514225E069-23508
chr2131514267131514572E069-23161
chr2131554929131556355E06917196
chr2131512605131512659E070-25074
chr2131512777131512999E070-24734
chr2131513002131514225E070-23508
chr2131554929131556355E07017196
chr2131514267131514572E071-23161
chr2131554929131556355E07117196
chr2131512605131512659E072-25074
chr2131512777131512999E072-24734
chr2131513002131514225E072-23508
chr2131514267131514572E072-23161
chr2131554929131556355E07217196
chr2131512605131512659E073-25074
chr2131512777131512999E073-24734
chr2131513002131514225E073-23508
chr2131514267131514572E073-23161
chr2131554929131556355E07317196
chr2131554929131556355E07417196
chr2131513002131514225E081-23508
chr2131514267131514572E081-23161
chr2131512777131512999E082-24734
chr2131513002131514225E082-23508
chr2131514267131514572E082-23161
chr2131554929131556355E08217196