rs3817576

Homo sapiens
A>G
C7orf50 : Intron Variant
CYP2W1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0378 (11296/29810,GnomAD)
A==0326 (9501/29118,TOPMED)
A==0353 (1769/5008,1000G)
A==0470 (1810/3854,ALSPAC)
A==0487 (1804/3708,TWINSUK)
chr7:983555 (GRCh38.p7) (7p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
251 Enhancers around
56 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.983555A>G
GRCh37.p13 chr 7NC_000007.13:g.1023191A>G
CYP2W1 RefSeqGeneNG_007934.1:g.5357A>G

Gene: CYP2W1, cytochrome P450 family 2 subfamily W member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CYP2W1 transcriptNM_017781.2:c.N/AIntron Variant
CYP2W1 transcript variant X1XM_011515440.2:c.N/AIntron Variant
CYP2W1 transcript variant X2XM_011515441.2:c.N/AIntron Variant

Gene: C7orf50, chromosome 7 open reading frame 50(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C7orf50 transcript variant 2NM_001134395.1:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant 3NM_001134396.1:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant 4NM_001318252.1:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant 1NM_032350.5:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant 5NR_134537.1:n.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant 6NR_134538.1:n.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant X1XM_011515580.2:c.N/AIntron Variant
C7orf50 transcript variant X5XM_011515581.2:c.N/AIntron Variant
C7orf50 transcript variant X4XM_011515582.2:c.N/AIntron Variant
C7orf50 transcript variant X8XM_011515583.2:c.N/AIntron Variant
C7orf50 transcript variant X6XM_011515584.2:c.N/AIntron Variant
C7orf50 transcript variant X7XM_017012720.1:c.N/AIntron Variant
C7orf50 transcript variant X9XM_017012721.1:c.N/AIntron Variant
C7orf50 transcript variant X3XM_006715793.2:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant X2XM_017012719.1:c.N/AGenic Downstream Transcript Variant
C7orf50 transcript variant X10XM_017012722.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.072G=0.928
1000GenomesAmericanSub694A=0.380G=0.620
1000GenomesEast AsianSub1008A=0.387G=0.613
1000GenomesEuropeSub1006A=0.499G=0.501
1000GenomesGlobalStudy-wide5008A=0.353G=0.647
1000GenomesSouth AsianSub978A=0.530G=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.470G=0.530
The Genome Aggregation DatabaseAfricanSub8678A=0.141G=0.859
The Genome Aggregation DatabaseAmericanSub834A=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1616A=0.426G=0.574
The Genome Aggregation DatabaseEuropeSub18380A=0.483G=0.516
The Genome Aggregation DatabaseGlobalStudy-wide29810A=0.378G=0.621
The Genome Aggregation DatabaseOtherSub302A=0.570G=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.326G=0.673
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.487G=0.513
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
rs38175760.000461alcohol consumption (maxi-drinks)24277619

eQTL of rs3817576 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Cerebellum
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Frontal_Cortex_BA9
Chr7:1023191AC091729.9ENSG00000229043.2A>G1.9382e-24-176930Hypothalamus
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Cortex
Chr7:1023191GPR146ENSG00000164849.7A>G2.0435e-4-61021Cerebellar_Hemisphere
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Cerebellar_Hemisphere
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Caudate_basal_ganglia
Chr7:1023191AC091729.9ENSG00000229043.2A>G9.2797e-17-176930Brain_Spinal_cord_cervical
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Anterior_cingulate_cortex
Chr7:1023191AC091729.9ENSG00000229043.2A>G0.0000e+0-176930Nucleus_accumbens_basal_ganglia
Chr7:1023191MAFKENSG00000198517.5A>G5.4508e-3-547159Nucleus_accumbens_basal_ganglia

meQTL of rs3817576 in Fetal Brain

Probe ID Position Gene beta p-value
cg16145915chr7:1198662ZFAND2A0.07406992352071642.6878e-11
cg05779406chr7:1198841ZFAND2A0.08395018522263517.6434e-11

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 )
chr7984540984723E067-38468
chr7991858991971E067-31220
chr710039811004031E067-19160
chr710040411005142E067-18049
chr710116801011743E067-11448
chr710118391011906E067-11285
chr710120031012101E067-11090
chr710121481012215E067-10976
chr710122531012357E067-10834
chr710124131012692E067-10499
chr710126991012848E067-10343
chr710129251013108E067-10083
chr710166411017798E067-5393
chr710311051033927E0677914
chr710512851051434E06728094
chr710514901051603E06728299
chr710517041051912E06728513
chr710520571052322E06728866
chr710589411059082E06735750
chr710592941059373E06736103
chr710689591069216E06745768
chr7984540984723E068-38468
chr7994998995096E068-28095
chr7995760995953E068-27238
chr710028271003745E068-19446
chr710037501003933E068-19258
chr710039811004031E068-19160
chr710040411005142E068-18049
chr710120031012101E068-11090
chr710121481012215E068-10976
chr710122531012357E068-10834
chr710124131012692E068-10499
chr710126991012848E068-10343
chr710129251013108E068-10083
chr710160671016158E068-7033
chr710163531016450E068-6741
chr710166411017798E068-5393
chr710311051033927E0687914
chr710512851051434E06828094
chr710514901051603E06828299
chr710517041051912E06828513
chr710520571052322E06828866
chr710525111052565E06829320
chr710526841052778E06829493
chr710652191065490E06842028
chr710656391065728E06842448
chr710692551069909E06846064
chr710700321070115E06846841
chr710701461070225E06846955
chr7984540984723E069-38468
chr7984737986646E069-36545
chr7987136987205E069-35986
chr7987211987265E069-35926
chr7987322987389E069-35802
chr7987427987514E069-35677
chr7987650987710E069-35481
chr7987749987820E069-35371
chr7988071988244E069-34947
chr7991443991512E069-31679
chr7991652991696E069-31495
chr7991858991971E069-31220
chr710115921011642E069-11549
chr710116801011743E069-11448
chr710118391011906E069-11285
chr710120031012101E069-11090
chr710121481012215E069-10976
chr710122531012357E069-10834
chr710124131012692E069-10499
chr710126991012848E069-10343
chr710129251013108E069-10083
chr710160671016158E069-7033
chr710163531016450E069-6741
chr710166411017798E069-5393
chr710179061019156E069-4035
chr710311051033927E0697914
chr710646171064699E06941426
chr710647361064958E06941545
chr710649881065088E06941797
chr710650971065194E06941906
chr710652191065490E06942028
chr710656391065728E06942448
chr710657521066349E06942561
chr710692551069909E06946064
chr710700321070115E06946841
chr710701461070225E06946955
chr710702461070286E06947055
chr710166411017798E070-5393
chr710646171064699E07041426
chr710647361064958E07041545
chr710649881065088E07041797
chr710650971065194E07041906
chr710652191065490E07042028
chr710656391065728E07042448
chr7984540984723E071-38468
chr7984737986646E071-36545
chr7987211987265E071-35926
chr7987322987389E071-35802
chr7987749987820E071-35371
chr7991443991512E071-31679
chr7991652991696E071-31495
chr7991858991971E071-31220
chr7997118998008E071-25183
chr710028271003745E071-19446
chr710037501003933E071-19258
chr710039811004031E071-19160
chr710040411005142E071-18049
chr710051571005411E071-17780
chr710120031012101E071-11090
chr710121481012215E071-10976
chr710122531012357E071-10834
chr710124131012692E071-10499
chr710126991012848E071-10343
chr710129251013108E071-10083
chr710160671016158E071-7033
chr710163531016450E071-6741
chr710166411017798E071-5393
chr710179061019156E071-4035
chr710279451028003E0714754
chr710280511028632E0714860
chr710286481028844E0715457
chr710288671029030E0715676
chr710311051033927E0717914
chr710589411059082E07135750
chr710592941059373E07136103
chr710657521066349E07142561
chr710689591069216E07145768
chr710692551069909E07146064
chr7984540984723E072-38468
chr7984737986646E072-36545
chr7991443991512E072-31679
chr7991652991696E072-31495
chr7991858991971E072-31220
chr710028271003745E072-19446
chr710037501003933E072-19258
chr710039811004031E072-19160
chr710040411005142E072-18049
chr710051571005411E072-17780
chr710060801006176E072-17015
chr710062561006399E072-16792
chr710124131012692E072-10499
chr710126991012848E072-10343
chr710160671016158E072-7033
chr710163531016450E072-6741
chr710166411017798E072-5393
chr710311051033927E0727914
chr710436511044285E07220460
chr710504991050665E07227308
chr710507331051225E07227542
chr710512851051434E07228094
chr710514901051603E07228299
chr710517041051912E07228513
chr710520571052322E07228866
chr710553381055716E07232147
chr710561281056178E07232937
chr710561831056247E07232992
chr710563351056403E07233144
chr710564581056512E07233267
chr710566641056724E07233473
chr710567401056812E07233549
chr710656391065728E07242448
chr710657521066349E07242561
chr710689591069216E07245768
chr710692551069909E07246064
chr710700321070115E07246841
chr710701461070225E07246955
chr7984540984723E073-38468
chr7984737986646E073-36545
chr7994998995096E073-28095
chr710028271003745E073-19446
chr710037501003933E073-19258
chr710039811004031E073-19160
chr710040411005142E073-18049
chr710051571005411E073-17780
chr710060801006176E073-17015
chr710118391011906E073-11285
chr710120031012101E073-11090
chr710121481012215E073-10976
chr710122531012357E073-10834
chr710124131012692E073-10499
chr710126991012848E073-10343
chr710129251013108E073-10083
chr710166411017798E073-5393
chr710311051033927E0737914
chr710504991050665E07327308
chr710507331051225E07327542
chr710512851051434E07328094
chr710514901051603E07328299
chr710517041051912E07328513
chr710535971053651E07330406
chr710536861053883E07330495
chr710539111053969E07330720
chr710541571054207E07330966
chr710544711054715E07331280
chr710553381055716E07332147
chr710561281056178E07332937
chr710561831056247E07332992
chr710563351056403E07333144
chr710564581056512E07333267
chr710566641056724E07333473
chr710567401056812E07333549
chr710589411059082E07335750
chr710592941059373E07336103
chr710595141059683E07336323
chr710596981059770E07336507
chr710598431059944E07336652
chr710600681060370E07336877
chr710604441060684E07337253
chr710607251060835E07337534
chr710608961061080E07337705
chr710611191061321E07337928
chr710657521066349E07342561
chr710689591069216E07345768
chr710692551069909E07346064
chr710700321070115E07346841
chr710701461070225E07346955
chr710702461070286E07347055
chr7984540984723E074-38468
chr7984737986646E074-36545
chr7997118998008E074-25183
chr710039811004031E074-19160
chr710040411005142E074-18049
chr710118391011906E074-11285
chr710120031012101E074-11090
chr710121481012215E074-10976
chr710122531012357E074-10834
chr710124131012692E074-10499
chr710126991012848E074-10343
chr710129251013108E074-10083
chr710160671016158E074-7033
chr710163531016450E074-6741
chr710166411017798E074-5393
chr710311051033927E0747914
chr7994998995096E081-28095
chr7998972999039E081-24152
chr7999518999558E081-23633
chr710028271003745E081-19446
chr710037501003933E081-19258
chr710039811004031E081-19160
chr710040411005142E081-18049
chr710051571005411E081-17780
chr710060801006176E081-17015
chr710216641021832E081-1359
chr710218431023151E081-40
chr710561831056247E08132992
chr710563351056403E08133144
chr710647361064958E08141545
chr710649881065088E08141797
chr710650971065194E08141906
chr710652191065490E08142028
chr710656391065728E08142448
chr710657521066349E08142561









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7992911993894E067-29297
chr710141981014269E067-8922
chr710143091014374E067-8817
chr710144151016062E067-7129
chr710664351068928E06743244
chr7992911993894E068-29297
chr710141981014269E068-8922
chr710143091014374E068-8817
chr710144151016062E068-7129
chr710664351068928E06843244
chr7992911993894E069-29297
chr7993988994514E069-28677
chr7994515994806E069-28385
chr710141981014269E069-8922
chr710143091014374E069-8817
chr710144151016062E069-7129
chr710664351068928E06943244
chr7993988994514E070-28677
chr710141981014269E070-8922
chr710143091014374E070-8817
chr710144151016062E070-7129
chr710664351068928E07043244
chr7992911993894E071-29297
chr7993988994514E071-28677
chr7994515994806E071-28385
chr710141981014269E071-8922
chr710143091014374E071-8817
chr710144151016062E071-7129
chr710664351068928E07143244
chr7992911993894E072-29297
chr7993988994514E072-28677
chr7994515994806E072-28385
chr710141981014269E072-8922
chr710143091014374E072-8817
chr710144151016062E072-7129
chr710664351068928E07243244
chr7992911993894E073-29297
chr7993988994514E073-28677
chr7994515994806E073-28385
chr710141981014269E073-8922
chr710143091014374E073-8817
chr710144151016062E073-7129
chr710664351068928E07343244
chr7992911993894E074-29297
chr7994515994806E074-28385
chr710141981014269E074-8922
chr710143091014374E074-8817
chr710144151016062E074-7129
chr710664351068928E07443244
chr7992911993894E082-29297
chr7993988994514E082-28677
chr7994515994806E082-28385
chr710141981014269E082-8922
chr710143091014374E082-8817
chr710144151016062E082-7129
chr710664351068928E08243244