rs2249443

Homo sapiens
G>A
CXADR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0356 (10583/29668,GnomAD)
G==0401 (11692/29118,TOPMED)
G==0356 (1781/5008,1000G)
G==0337 (1297/3854,ALSPAC)
G==0331 (1229/3708,TWINSUK)
chr21:17560034 (GRCh38.p7) (21q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.17560034G>A
GRCh37.p13 chr 21NC_000021.8:g.18932352G>A
CXADR RefSeqGeneNG_029458.1:g.52129G>A

Gene: CXADR, coxsackie virus and adenovirus receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CXADR transcript variant 2NM_001207063.1:c.N/AIntron Variant
CXADR transcript variant 3NM_001207064.1:c.N/AIntron Variant
CXADR transcript variant 4NM_001207065.1:c.N/AIntron Variant
CXADR transcript variant 5NM_001207066.1:c.N/AIntron Variant
CXADR transcript variant 1NM_001338.4:c.N/AIntron Variant
CXADR transcript variant X2XM_011529476.2:c.N/AIntron Variant
CXADR transcript variant X3XM_011529477.2:c.N/AIntron Variant
CXADR transcript variant X4XM_011529478.2:c.N/AIntron Variant
CXADR transcript variant X5XM_011529479.1:c.N/AIntron Variant
CXADR transcript variant X1XR_001754814.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.535A=0.465
1000GenomesAmericanSub694G=0.320A=0.680
1000GenomesEast AsianSub1008G=0.233A=0.767
1000GenomesEuropeSub1006G=0.333A=0.667
1000GenomesGlobalStudy-wide5008G=0.356A=0.644
1000GenomesSouth AsianSub978G=0.290A=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.337A=0.663
The Genome Aggregation DatabaseAfricanSub8646G=0.479A=0.521
The Genome Aggregation DatabaseAmericanSub836G=0.280A=0.720
The Genome Aggregation DatabaseEast AsianSub1606G=0.267A=0.733
The Genome Aggregation DatabaseEuropeSub18278G=0.311A=0.688
The Genome Aggregation DatabaseGlobalStudy-wide29668G=0.356A=0.643
The Genome Aggregation DatabaseOtherSub302G=0.290A=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.401A=0.598
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.331A=0.669
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs22494430.000586nicotine dependence17158188

eQTL of rs2249443 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 rs2249443 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 )
chr211888741218887462E067-44890
chr211888760918887751E067-44601
chr211888781218887852E067-44500
chr211888816418888353E067-43999
chr211888862618888690E067-43662
chr211889513818895876E067-36476
chr211889911018899422E067-32930
chr211889942618900082E067-32270
chr211890014218900376E067-31976
chr211890042618900498E067-31854
chr211890071618900766E067-31586
chr211890113918901251E067-31101
chr211890561618905735E067-26617
chr211890581518905957E067-26395
chr211891402618914210E067-18142
chr211891454918915076E067-17276
chr211891509418915359E067-16993
chr211892669518926846E067-5506
chr211892690618927526E067-4826
chr211893085218931260E067-1092
chr211888816418888353E068-43999
chr211888862618888690E068-43662
chr211888884318888893E068-43459
chr211889911018899422E068-32930
chr211889942618900082E068-32270
chr211890014218900376E068-31976
chr211890476818904845E068-27507
chr211890966818909953E068-22399
chr211890996718910080E068-22272
chr211891175818911884E068-20468
chr211891221318912410E068-19942
chr211891454918915076E068-17276
chr211891509418915359E068-16993
chr211892060918921049E068-11303
chr211892108218921168E068-11184
chr211892669518926846E068-5506
chr211892690618927526E068-4826
chr211893307518933141E068723
chr211897994318980500E06847591
chr211889495118895070E069-37282
chr211889513818895876E069-36476
chr211889911018899422E069-32930
chr211889942618900082E069-32270
chr211890444018904490E069-27862
chr211890476818904845E069-27507
chr211890561618905735E069-26617
chr211890581518905957E069-26395
chr211890868618909126E069-23226
chr211890966818909953E069-22399
chr211890996718910080E069-22272
chr211891454918915076E069-17276
chr211891509418915359E069-16993
chr211892669518926846E069-5506
chr211892690618927526E069-4826
chr211893085218931260E069-1092
chr211893279318932941E069441
chr211893307518933141E069723
chr211888741218887462E070-44890
chr211891454918915076E070-17276
chr211891509418915359E070-16993
chr211889911018899422E071-32930
chr211889942618900082E071-32270
chr211890014218900376E071-31976
chr211890561618905735E071-26617
chr211890581518905957E071-26395
chr211890861918908673E071-23679
chr211890868618909126E071-23226
chr211890966818909953E071-22399
chr211890996718910080E071-22272
chr211891107618911126E071-21226
chr211891454918915076E071-17276
chr211891509418915359E071-16993
chr211891544018915516E071-16836
chr211891558118915635E071-16717
chr211892060918921049E071-11303
chr211892108218921168E071-11184
chr211892646318926517E071-5835
chr211892793618927986E071-4366
chr211892834518928472E071-3880
chr211892855918928609E071-3743
chr211897994318980500E07147591
chr211888741218887462E072-44890
chr211888760918887751E072-44601
chr211888781218887852E072-44500
chr211888816418888353E072-43999
chr211889495118895070E072-37282
chr211889851618898570E072-33782
chr211889911018899422E072-32930
chr211889942618900082E072-32270
chr211890014218900376E072-31976
chr211891454918915076E072-17276
chr211891509418915359E072-16993
chr211891544018915516E072-16836
chr211891558118915635E072-16717
chr211891963618919690E072-12662
chr211892646318926517E072-5835
chr211892669518926846E072-5506
chr211892690618927526E072-4826
chr211893085218931260E072-1092
chr211888741218887462E073-44890
chr211888760918887751E073-44601
chr211888781218887852E073-44500
chr211888816418888353E073-43999
chr211888862618888690E073-43662
chr211888884318888893E073-43459
chr211891454918915076E073-17276
chr211891509418915359E073-16993
chr211892669518926846E073-5506
chr211892690618927526E073-4826
chr211888741218887462E074-44890
chr211888760918887751E074-44601
chr211888781218887852E074-44500
chr211888816418888353E074-43999
chr211888862618888690E074-43662
chr211888884318888893E074-43459
chr211888897018889041E074-43311
chr211889942618900082E074-32270
chr211890476818904845E074-27507
chr211890561618905735E074-26617
chr211890581518905957E074-26395
chr211890966818909953E074-22399
chr211891509418915359E074-16993
chr211892646318926517E074-5835
chr211892669518926846E074-5506
chr211892690618927526E074-4826
chr211892834518928472E074-3880
chr211892855918928609E074-3743
chr211893085218931260E074-1092
chr211893279318932941E074441
chr211893307518933141E074723
chr211888741218887462E081-44890
chr211888760918887751E081-44601
chr211889911018899422E081-32930
chr211889942618900082E081-32270
chr211891376218913802E081-18550
chr211891402618914210E081-18142
chr211891454918915076E081-17276
chr211891509418915359E081-16993
chr211891544018915516E081-16836
chr211891558118915635E081-16717
chr211888741218887462E082-44890
chr211888760918887751E082-44601
chr211891454918915076E082-17276
chr211891509418915359E082-16993
chr211891544018915516E082-16836
chr211891558118915635E082-16717










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr211888391418886935E067-45417
chr211888391418886935E068-45417
chr211888391418886935E069-45417
chr211888391418886935E070-45417
chr211888700118887131E070-45221
chr211888391418886935E071-45417
chr211888391418886935E072-45417
chr211888391418886935E073-45417
chr211888391418886935E074-45417
chr211888391418886935E081-45417
chr211888391418886935E082-45417
chr211888700118887131E082-45221
chr211888717918887249E082-45103