rs2289774

Homo sapiens
T>C
ENOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0138 (4155/29986,GnomAD)
C=0131 (3830/29116,TOPMED)
C=0127 (637/5008,1000G)
C=0159 (614/3854,ALSPAC)
C=0166 (614/3708,TWINSUK)
chr13:43224212 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
151 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.43224212T>C
GRCh37.p13 chr 13NC_000013.10:g.43798348T>C

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ENOX1 transcript variant 2NM_001127615.1:c.N/AIntron Variant
ENOX1 transcript variant 3NM_001242863.1:c.N/AIntron Variant
ENOX1 transcript variant 1NM_017993.3:c.N/AIntron Variant
ENOX1 transcript variant X1XM_005266439.3:c.N/AIntron Variant
ENOX1 transcript variant X2XM_011535126.2:c.N/AIntron Variant
ENOX1 transcript variant X5XM_011535127.2:c.N/AIntron Variant
ENOX1 transcript variant X4XM_011535128.2:c.N/AIntron Variant
ENOX1 transcript variant X8XM_011535132.2:c.N/AIntron Variant
ENOX1 transcript variant X3XM_017020637.1:c.N/AIntron Variant
ENOX1 transcript variant X6XM_017020638.1:c.N/AIntron Variant
ENOX1 transcript variant X7XM_017020639.1:c.N/AIntron Variant
ENOX1 transcript variant X9XM_017020640.1:c.N/AIntron Variant
ENOX1 transcript variant X10XM_017020641.1:c.N/AGenic Downstream Transcript Variant
ENOX1 transcript variant X12XM_017020642.1:c.N/AGenic Downstream Transcript Variant
ENOX1 transcript variant X13XR_001749593.1:n.N/AIntron Variant
ENOX1 transcript variant X12XR_001749594.1:n.N/AIntron Variant
ENOX1 transcript variant X11XR_001749592.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.902C=0.098
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.879C=0.121
1000GenomesEuropeSub1006T=0.851C=0.149
1000GenomesGlobalStudy-wide5008T=0.873C=0.127
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.841C=0.159
The Genome Aggregation DatabaseAfricanSub8726T=0.895C=0.105
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1618T=0.865C=0.135
The Genome Aggregation DatabaseEuropeSub18502T=0.848C=0.151
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.861C=0.138
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.868C=0.131
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.834C=0.166
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22897740.00046alcohol dependence20201924

eQTL of rs2289774 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 rs2289774 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 )
chr134379651243796745E067-1603
chr134379680843797017E067-1331
chr134380802643808096E0679678
chr134381168643811798E06713338
chr134382681143826861E06728463
chr134384505543845156E06746707
chr134384516943845360E06746821
chr134384544743845497E06747099
chr134384550743845561E06747159
chr134384505543845156E06846707
chr134379651243796745E069-1603
chr134379680843797017E069-1331
chr134379725243797322E069-1026
chr134379735643797413E069-935
chr134379759643797703E069-645
chr134379806743798197E069-151
chr134376785343767903E070-30445
chr134376795143768235E070-30113
chr134376824543768370E070-29978
chr134376841743768500E070-29848
chr134376852243768572E070-29776
chr134376867843768722E070-29626
chr134376882243769202E070-29146
chr134376938743769476E070-28872
chr134376959743769687E070-28661
chr134376973143769833E070-28515
chr134378104543781266E070-17082
chr134378153843781596E070-16752
chr134378171443782040E070-16308
chr134378204843782153E070-16195
chr134378228143782530E070-15818
chr134378283043782880E070-15468
chr134378292843782978E070-15370
chr134379589143796059E070-2289
chr134379651243796745E070-1603
chr134379680843797017E070-1331
chr134379725243797322E070-1026
chr134379735643797413E070-935
chr134379759643797703E070-645
chr134379806743798197E070-151
chr134379851843798584E070170
chr134379882643798880E070478
chr134382616943826419E07027821
chr134382647743826579E07028129
chr134382667843826743E07028330
chr134382681143826861E07028463
chr134382690743827026E07028559
chr134382711243827402E07028764
chr134382757343827623E07029225
chr134383708843837148E07038740
chr134383724543837505E07038897
chr134383795343838057E07039605
chr134383817843838534E07039830
chr134383860743838828E07040259
chr134383908743839293E07040739
chr134383935143839421E07041003
chr134383944643839562E07041098
chr134383991343839965E07041565
chr134384021543840458E07041867
chr134384061143840711E07042263
chr134384197243842093E07043624
chr134384285943844859E07044511
chr134384505543845156E07046707
chr134384516943845360E07046821
chr134384544743845497E07047099
chr134384550743845561E07047159
chr134384721243847478E07048864
chr134384755043847753E07049202
chr134379651243796745E071-1603
chr134384505543845156E07146707
chr134384516943845360E07146821
chr134384544743845497E07147099
chr134384550743845561E07147159
chr134384505543845156E07246707
chr134384516943845360E07246821
chr134384645943846513E07348111
chr134379651243796745E074-1603
chr134379680843797017E074-1331
chr134379725243797322E074-1026
chr134379735643797413E074-935
chr134382616943826419E07427821
chr134382647743826579E07428129
chr134376785343767903E081-30445
chr134376795143768235E081-30113
chr134376824543768370E081-29978
chr134376841743768500E081-29848
chr134376852243768572E081-29776
chr134376867843768722E081-29626
chr134376882243769202E081-29146
chr134376938743769476E081-28872
chr134376959743769687E081-28661
chr134376973143769833E081-28515
chr134376984443769916E081-28432
chr134376994643770066E081-28282
chr134377008543771553E081-26795
chr134377162643771724E081-26624
chr134377182843771882E081-26466
chr134377196643772016E081-26332
chr134378104543781266E081-17082
chr134378153843781596E081-16752
chr134378171443782040E081-16308
chr134378204843782153E081-16195
chr134378228143782530E081-15818
chr134378775243787986E081-10362
chr134378816143788212E081-10136
chr134379651243796745E081-1603
chr134381168643811798E08113338
chr134382592743825995E08127579
chr134382616943826419E08127821
chr134382647743826579E08128129
chr134382667843826743E08128330
chr134382681143826861E08128463
chr134382690743827026E08128559
chr134382711243827402E08128764
chr134382757343827623E08129225
chr134383908743839293E08140739
chr134383935143839421E08141003
chr134383944643839562E08141098
chr134383991343839965E08141565
chr134384021543840458E08141867
chr134384061143840711E08142263
chr134384109543841503E08142747
chr134384155743841898E08143209
chr134384197243842093E08143624
chr134384285943844859E08144511
chr134384505543845156E08146707
chr134384516943845360E08146821
chr134384544743845497E08147099
chr134384550743845561E08147159
chr134376785343767903E082-30445
chr134376795143768235E082-30113
chr134376824543768370E082-29978
chr134376841743768500E082-29848
chr134376852243768572E082-29776
chr134376867843768722E082-29626
chr134376938743769476E082-28872
chr134376959743769687E082-28661
chr134376973143769833E082-28515
chr134376984443769916E082-28432
chr134376994643770066E082-28282
chr134377008543771553E082-26795
chr134377162643771724E082-26624
chr134377182843771882E082-26466
chr134377196643772016E082-26332
chr134378153843781596E082-16752
chr134382592743825995E08227579
chr134382647743826579E08228129
chr134384109543841503E08242747
chr134384155743841898E08243209
chr134384197243842093E08243624
chr134384285943844859E08244511