rs4689294

Homo sapiens
G>A
C4orf50 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0173 (5182/29940,GnomAD)
A=0238 (6942/29118,TOPMED)
A=0167 (837/5008,1000G)
A=0065 (251/3854,ALSPAC)
A=0072 (268/3708,TWINSUK)
chr4:5917982 (GRCh38.p7) (4p16.2)
AD
GWASdb2
1   publication(s)
See rs on genome
119 Enhancers around
69 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.5917982G>A
GRCh37.p13 chr 4NC_000004.11:g.5919709G>A

Gene: C4orf50, uncharacterized C4orf50(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C4orf50 transcript variant X6XM_011513603.2:c.N/AIntron Variant
C4orf50 transcript variant X5XM_011513604.2:c.N/AIntron Variant
C4orf50 transcript variant X1XM_017008891.1:c.N/AIntron Variant
C4orf50 transcript variant X2XM_017008892.1:c.N/AIntron Variant
C4orf50 transcript variant X3XM_017008893.1:c.N/AIntron Variant
C4orf50 transcript variant X4XM_017008894.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.534A=0.466
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=0.993A=0.007
1000GenomesEuropeSub1006G=0.927A=0.073
1000GenomesGlobalStudy-wide5008G=0.833A=0.167
1000GenomesSouth AsianSub978G=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.935A=0.065
The Genome Aggregation DatabaseAfricanSub8702G=0.570A=0.430
The Genome Aggregation DatabaseAmericanSub836G=0.930A=0.070
The Genome Aggregation DatabaseEast AsianSub1622G=0.996A=0.004
The Genome Aggregation DatabaseEuropeSub18478G=0.926A=0.073
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.826A=0.173
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.761A=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.928A=0.072
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
rs46892940.000983alcohol dependence20201924

eQTL of rs4689294 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 rs4689294 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 )
chr458716795872379E067-47330
chr458765845876839E067-42870
chr458791885879337E067-40372
chr458867105886849E067-32860
chr458875425887699E067-32010
chr458765845876839E068-42870
chr458769055876996E068-42713
chr458791885879337E068-40372
chr458811695881502E068-38207
chr459229415923462E0683232
chr459349645935094E06815255
chr459572025957577E06837493
chr459576835957763E06837974
chr459579735958073E06838264
chr459580755958130E06838366
chr459581975958660E06838488
chr459587385958923E06839029
chr459589385959008E06839229
chr458716795872379E069-47330
chr458875425887699E069-32010
chr458716795872379E070-47330
chr458724865872802E070-46907
chr458765845876839E070-42870
chr458769055876996E070-42713
chr458791885879337E070-40372
chr458811695881502E070-38207
chr458832365883359E070-36350
chr458847915884927E070-34782
chr458857145885939E070-33770
chr459074745907977E070-11732
chr459080775908198E070-11511
chr459082625908406E070-11303
chr459143675914745E070-4964
chr459204755920586E070766
chr459229415923462E0703232
chr459235435923631E0703834
chr459253045925449E0705595
chr459415095941660E07021800
chr459417125941790E07022003
chr459418395941940E07022130
chr459422305942513E07022521
chr459434675943550E07023758
chr459436675943763E07023958
chr459572025957577E07037493
chr459576835957763E07037974
chr459581975958660E07038488
chr459587385958923E07039029
chr459349645935094E07115255
chr458716795872379E072-47330
chr458791885879337E072-40372
chr458867105886849E072-32860
chr458875425887699E072-32010
chr459244945924548E0724785
chr459360745936150E07216365
chr459579735958073E07238264
chr459580755958130E07238366
chr459581975958660E07238488
chr459658855965990E07246176
chr458716795872379E073-47330
chr458774155877500E073-42209
chr458791885879337E073-40372
chr458811695881502E073-38207
chr458857145885939E073-33770
chr458865795886675E073-33034
chr458867105886849E073-32860
chr458875425887699E073-32010
chr459229415923462E0733232
chr459579735958073E07338264
chr459580755958130E07338366
chr459581975958660E07338488
chr458716795872379E081-47330
chr458724865872802E081-46907
chr458765845876839E081-42870
chr458769055876996E081-42713
chr458772315877331E081-42378
chr458774155877500E081-42209
chr458791885879337E081-40372
chr458811695881502E081-38207
chr458832365883359E081-36350
chr458847915884927E081-34782
chr458867105886849E081-32860
chr458875425887699E081-32010
chr459074745907977E081-11732
chr459080775908198E081-11511
chr459082625908406E081-11303
chr459138855914104E081-5605
chr459143675914745E081-4964
chr459147825915139E081-4570
chr459153425915392E081-4317
chr459229415923462E0813232
chr459235435923631E0813834
chr459244945924548E0814785
chr459255865925636E0815877
chr459579735958073E08138264
chr459580755958130E08138366
chr459581975958660E08138488
chr459587385958923E08139029
chr459589385959008E08139229
chr458716795872379E082-47330
chr458765845876839E082-42870
chr458769055876996E082-42713
chr458772315877331E082-42378
chr458774155877500E082-42209
chr458791885879337E082-40372
chr458811695881502E082-38207
chr458832365883359E082-36350
chr459071185907294E082-12415
chr459074745907977E082-11732
chr459080775908198E082-11511
chr459143675914745E082-4964
chr459147825915139E082-4570
chr459244945924548E0824785
chr459415095941660E08221800
chr459417125941790E08222003
chr459418395941940E08222130
chr459422305942513E08222521
chr459579735958073E08238264
chr459580755958130E08238366
chr459581975958660E08238488









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr458888615890132E067-29577
chr458901415890556E067-29153
chr458916785892413E067-27296
chr458925005892582E067-27127
chr458926825893196E067-26513
chr458933395893507E067-26202
chr458939445894048E067-25661
chr458940505894195E067-25514
chr458944465895430E067-24279
chr458888615890132E068-29577
chr458901415890556E068-29153
chr458905575890919E068-28790
chr458916785892413E068-27296
chr458925005892582E068-27127
chr458926825893196E068-26513
chr458939445894048E068-25661
chr458940505894195E068-25514
chr458944465895430E068-24279
chr458901415890556E069-29153
chr458925005892582E069-27127
chr458926825893196E069-26513
chr458939445894048E069-25661
chr458940505894195E069-25514
chr458888615890132E070-29577
chr458901415890556E070-29153
chr458905575890919E070-28790
chr458916785892413E070-27296
chr458933395893507E070-26202
chr458939445894048E070-25661
chr458940505894195E070-25514
chr458944465895430E070-24279
chr458901415890556E071-29153
chr458916785892413E071-27296
chr458925005892582E071-27127
chr458926825893196E071-26513
chr458939445894048E071-25661
chr458940505894195E071-25514
chr458944465895430E071-24279
chr458888615890132E072-29577
chr458901415890556E072-29153
chr458905575890919E072-28790
chr458916785892413E072-27296
chr458925005892582E072-27127
chr458926825893196E072-26513
chr458933395893507E072-26202
chr458939445894048E072-25661
chr458940505894195E072-25514
chr458944465895430E072-24279
chr458888615890132E073-29577
chr458901415890556E073-29153
chr458916785892413E073-27296
chr458925005892582E073-27127
chr458926825893196E073-26513
chr458933395893507E073-26202
chr458939445894048E073-25661
chr458940505894195E073-25514
chr458944465895430E073-24279
chr458888615890132E081-29577
chr458916785892413E081-27296
chr458925005892582E081-27127
chr458888615890132E082-29577
chr458901415890556E082-29153
chr458905575890919E082-28790
chr458916785892413E082-27296
chr458925005892582E082-27127
chr458926825893196E082-26513
chr458939445894048E082-25661
chr458940505894195E082-25514
chr458944465895430E082-24279