rs4905470

Homo sapiens
G>A
BDKRB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0191 (5714/29922,GnomAD)
A=0211 (6148/29118,TOPMED)
A=0222 (1112/5008,1000G)
A=0167 (642/3854,ALSPAC)
A=0177 (655/3708,TWINSUK)
chr14:96226874 (GRCh38.p7) (14q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
138 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.96226874G>A
GRCh37.p13 chr 14NC_000014.8:g.96693211G>A

Gene: BDKRB2, bradykinin receptor B2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BDKRB2 transcriptNM_000623.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.726A=0.274
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.789A=0.211
1000GenomesEuropeSub1006G=0.849A=0.151
1000GenomesGlobalStudy-wide5008G=0.778A=0.222
1000GenomesSouth AsianSub978G=0.770A=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.833A=0.167
The Genome Aggregation DatabaseAfricanSub8694G=0.743A=0.257
The Genome Aggregation DatabaseAmericanSub836G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1620G=0.793A=0.207
The Genome Aggregation DatabaseEuropeSub18470G=0.840A=0.159
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.809A=0.191
The Genome Aggregation DatabaseOtherSub302G=0.910A=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.788A=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.823A=0.177
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs49054707.41E-06alcohol consumption23953852

eQTL of rs4905470 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 rs4905470 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 )
chr149665952796659622E067-33589
chr149665965096659809E067-33402
chr149666991196670466E067-22745
chr149668337996683678E067-9533
chr149668369296683918E067-9293
chr149671011596710657E06716904
chr149674048096740730E06747269
chr149674084196741359E06747630
chr149674157796741650E06748366
chr149674166296742311E06748451
chr149674233496742448E06749123
chr149674259696742649E06749385
chr149674274196742831E06749530
chr149665889096659034E068-34177
chr149665934496659388E068-33823
chr149665984796659925E068-33286
chr149665996796660279E068-32932
chr149666441496664466E068-28745
chr149666447396664548E068-28663
chr149666460896664781E068-28430
chr149666483596665000E068-28211
chr149666991196670466E068-22745
chr149674009096740203E06846879
chr149674033996740466E06847128
chr149674048096740730E06847269
chr149674084196741359E06847630
chr149674157796741650E06848366
chr149674166296742311E06848451
chr149674233496742448E06849123
chr149665889096659034E069-34177
chr149665934496659388E069-33823
chr149665952796659622E069-33589
chr149671011596710657E06916904
chr149674084196741359E06947630
chr149674157796741650E06948366
chr149674166296742311E06948451
chr149674233496742448E06949123
chr149664806396648431E070-44780
chr149664843396648672E070-44539
chr149664877696648870E070-44341
chr149665636196656433E070-36778
chr149665675596656805E070-36406
chr149665883096658886E070-34325
chr149665889096659034E070-34177
chr149665934496659388E070-33823
chr149665996796660279E070-32932
chr149674166296742311E07048451
chr149665889096659034E071-34177
chr149665934496659388E071-33823
chr149665952796659622E071-33589
chr149665965096659809E071-33402
chr149665984796659925E071-33286
chr149666460896664781E071-28430
chr149666483596665000E071-28211
chr149666508796665383E071-27828
chr149666991196670466E071-22745
chr149668369296683918E071-9293
chr149671011596710657E07116904
chr149674033996740466E07147128
chr149674048096740730E07147269
chr149674084196741359E07147630
chr149674166296742311E07148451
chr149674233496742448E07149123
chr149674259696742649E07149385
chr149665104196651477E072-41734
chr149665889096659034E072-34177
chr149665934496659388E072-33823
chr149665952796659622E072-33589
chr149665965096659809E072-33402
chr149665984796659925E072-33286
chr149665996796660279E072-32932
chr149666991196670466E072-22745
chr149668369296683918E072-9293
chr149668408896684231E072-8980
chr149670974196709804E07216530
chr149671011596710657E07216904
chr149674033996740466E07247128
chr149674048096740730E07247269
chr149674084196741359E07247630
chr149674157796741650E07248366
chr149674166296742311E07248451
chr149674233496742448E07249123
chr149674259696742649E07249385
chr149665934496659388E073-33823
chr149665952796659622E073-33589
chr149665965096659809E073-33402
chr149665984796659925E073-33286
chr149665996796660279E073-32932
chr149666991196670466E073-22745
chr149674084196741359E07347630
chr149665889096659034E074-34177
chr149665934496659388E074-33823
chr149665952796659622E074-33589
chr149665965096659809E074-33402
chr149665984796659925E074-33286
chr149665996796660279E074-32932
chr149666991196670466E074-22745
chr149668369296683918E074-9293
chr149670974196709804E07416530
chr149671011596710657E07416904
chr149674009096740203E07446879
chr149674033996740466E07447128
chr149674048096740730E07447269
chr149674084196741359E07447630
chr149674233496742448E07449123
chr149674259696742649E07449385
chr149664843396648672E081-44539
chr149664877696648870E081-44341
chr149665321696653276E081-39935
chr149665850896658770E081-34441
chr149665883096658886E081-34325
chr149665889096659034E081-34177
chr149665934496659388E081-33823
chr149665952796659622E081-33589
chr149665965096659809E081-33402
chr149665984796659925E081-33286
chr149665996796660279E081-32932
chr149668114896681694E081-11517
chr149671855696718606E08125345
chr149671870296718759E08125491
chr149671876796719019E08125556
chr149671902296719088E08125811
chr149671914296719292E08125931
chr149671934796719944E08126136
chr149672000896720170E08126797
chr149665883096658886E082-34325
chr149665889096659034E082-34177
chr149665934496659388E082-33823
chr149665952796659622E082-33589
chr149668114896681694E082-11517
chr149668189096682117E082-11094
chr149668369296683918E082-9293
chr149668408896684231E082-8980
chr149671876796719019E08225556
chr149671902296719088E08225811
chr149671914296719292E08225931
chr149671934796719944E08226136
chr149674166296742311E08248451










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149667047496671746E067-21465
chr149667177496671962E068-21249
chr149667047496671746E069-21465
chr149667177496671962E069-21249
chr149667047496671746E070-21465
chr149667047496671746E071-21465
chr149667047496671746E072-21465
chr149667177496671962E072-21249
chr149667047496671746E073-21465
chr149667177496671962E073-21249
chr149667047496671746E074-21465
chr149667047496671746E082-21465