rs2304348

Homo sapiens
A>C
AZIN1 : Intron Variant
LOC107986873 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0100 (2997/29954,GnomAD)
C=0084 (2453/29118,TOPMED)
C=0087 (436/5008,1000G)
C=0141 (543/3854,ALSPAC)
C=0125 (464/3708,TWINSUK)
chr8:102833298 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.102833298A>C
GRCh37.p13 chr 8NC_000008.10:g.103845526A>C

Gene: AZIN1, antizyme inhibitor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
AZIN1 transcript variant 3NM_001301668.1:c.N/AIntron Variant
AZIN1 transcript variant 1NM_015878.5:c.N/AIntron Variant
AZIN1 transcript variant 2NM_148174.3:c.N/AIntron Variant
AZIN1 transcript variant X3XM_005250969.1:c.N/AIntron Variant
AZIN1 transcript variant X1XM_011517126.1:c.N/AIntron Variant
AZIN1 transcript variant X2XM_011517127.1:c.N/AIntron Variant
AZIN1 transcript variant X6XM_011517128.2:c.N/AIntron Variant
AZIN1 transcript variant X4XM_017013563.1:c.N/AIntron Variant
AZIN1 transcript variant X5XM_017013564.1:c.N/AIntron Variant
AZIN1 transcript variant X7XM_017013565.1:c.N/AIntron Variant
AZIN1 transcript variant X8XM_017013566.1:c.N/AIntron Variant

Gene: LOC107986873, uncharacterized LOC107986873(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986873 transcriptXM_017014121.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.992C=0.008
1000GenomesAmericanSub694A=0.730C=0.270
1000GenomesEast AsianSub1008A=0.955C=0.045
1000GenomesEuropeSub1006A=0.879C=0.121
1000GenomesGlobalStudy-wide5008A=0.913C=0.087
1000GenomesSouth AsianSub978A=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.859C=0.141
The Genome Aggregation DatabaseAfricanSub8728A=0.975C=0.025
The Genome Aggregation DatabaseAmericanSub834A=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1618A=0.944C=0.056
The Genome Aggregation DatabaseEuropeSub18472A=0.867C=0.132
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.899C=0.100
The Genome Aggregation DatabaseOtherSub302A=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.915C=0.084
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.875C=0.125
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
rs23043480.000965alcohol consumption (maxi-drinks)24277619

eQTL of rs2304348 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 rs2304348 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 )
chr8103802628103804179E067-41347
chr8103806179103808120E067-37406
chr8103816805103821888E067-23638
chr8103821989103822170E067-23356
chr8103848559103848599E0673033
chr8103853328103853440E0677802
chr8103853556103853616E0678030
chr8103858312103858499E06712786
chr8103871635103871742E06726109
chr8103871788103871856E06726262
chr8103799790103802501E068-43025
chr8103802628103804179E068-41347
chr8103816805103821888E068-23638
chr8103871176103871621E06825650
chr8103871635103871742E06826109
chr8103871788103871856E06826262
chr8103872803103872968E06827277
chr8103873085103873287E06827559
chr8103878271103878442E06832745
chr8103878677103878766E06833151
chr8103799790103802501E069-43025
chr8103816805103821888E069-23638
chr8103887444103887523E06941918
chr8103806179103808120E070-37406
chr8103850865103850908E0705339
chr8103851046103851156E0705520
chr8103871635103871742E07026109
chr8103871788103871856E07026262
chr8103871951103872390E07026425
chr8103872803103872968E07027277
chr8103873085103873287E07027559
chr8103873298103873387E07027772
chr8103873479103873681E07027953
chr8103873727103873869E07028201
chr8103873900103874027E07028374
chr8103878271103878442E07032745
chr8103878677103878766E07033151
chr8103799790103802501E071-43025
chr8103802628103804179E071-41347
chr8103816805103821888E071-23638
chr8103821989103822170E071-23356
chr8103871176103871621E07125650
chr8103871635103871742E07126109
chr8103871788103871856E07126262
chr8103871951103872390E07126425
chr8103802628103804179E072-41347
chr8103806179103808120E072-37406
chr8103816805103821888E072-23638
chr8103861968103862322E07216442
chr8103799790103802501E073-43025
chr8103802628103804179E073-41347
chr8103816805103821888E073-23638
chr8103861800103861860E07316274
chr8103861968103862322E07316442
chr8103869001103869124E07323475
chr8103869139103869189E07323613
chr8103871075103871136E07325549
chr8103871176103871621E07325650
chr8103871635103871742E07326109
chr8103871788103871856E07326262
chr8103871951103872390E07326425
chr8103802628103804179E074-41347
chr8103816805103821888E074-23638
chr8103821989103822170E074-23356
chr8103816805103821888E081-23638
chr8103826190103827266E081-18260
chr8103873727103873869E08128201
chr8103873900103874027E08128374
chr8103874034103874101E08128508
chr8103834954103835433E082-10093
chr8103872803103872968E08227277
chr8103873085103873287E08227559
chr8103873298103873387E08227772
chr8103878271103878442E08232745










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8103822263103823781E067-21745
chr8103874636103878212E06729110
chr8103822263103823781E068-21745
chr8103874636103878212E06829110
chr8103822263103823781E069-21745
chr8103874636103878212E06929110
chr8103822263103823781E070-21745
chr8103874636103878212E07029110
chr8103822263103823781E071-21745
chr8103874636103878212E07129110
chr8103822263103823781E072-21745
chr8103874636103878212E07229110
chr8103822263103823781E073-21745
chr8103874636103878212E07329110
chr8103874636103878212E07429110
chr8103822263103823781E082-21745
chr8103874636103878212E08229110