rs11900784

Homo sapiens
A>T
ANTXR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0338 (10119/29928,GnomAD)
T=0430 (12530/29116,TOPMED)
A==0485 (2431/5008,1000G)
T=0133 (512/3854,ALSPAC)
T=0127 (471/3708,TWINSUK)
chr2:69045364 (GRCh38.p7) (2p13.3)
ND
GWASdb2
1   publication(s)
See rs on genome
125 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.69045364A>T
GRCh37.p13 chr 2NC_000002.11:g.69272496A>T
ANTXR1 RefSeqGeneNG_012649.1:g.37221A>T

Gene: ANTXR1, anthrax toxin receptor 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ANTXR1 transcript variant 3NM_018153.3:c.N/AIntron Variant
ANTXR1 transcript variant 1NM_032208.2:c.N/AIntron Variant
ANTXR1 transcript variant 2NM_053034.2:c.N/AIntron Variant
ANTXR1 transcript variant X1XM_017005075.1:c.N/AIntron Variant
ANTXR1 transcript variant X2XM_017005076.1:c.N/AIntron Variant
ANTXR1 transcript variant X3XM_017005077.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.197T=0.803
1000GenomesAmericanSub694A=0.530T=0.470
1000GenomesEast AsianSub1008A=0.292T=0.708
1000GenomesEuropeSub1006A=0.853T=0.147
1000GenomesGlobalStudy-wide5008A=0.485T=0.515
1000GenomesSouth AsianSub978A=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.867T=0.133
The Genome Aggregation DatabaseAfricanSub8700A=0.300T=0.700
The Genome Aggregation DatabaseAmericanSub834A=0.560T=0.440
The Genome Aggregation DatabaseEast AsianSub1606A=0.319T=0.681
The Genome Aggregation DatabaseEuropeSub18486A=0.865T=0.135
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.661T=0.338
The Genome Aggregation DatabaseOtherSub302A=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.569T=0.430
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.873T=0.127
PMID Title Author Journal
23542338A genomewide association study of smoking relapse in four European population-based samples.Tozzi FPsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs119007843.09E-06nicotine dependence (smoking)23542338

eQTL of rs11900784 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 rs11900784 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 )
chr26925868469258783E067-13713
chr26925878469258846E067-13650
chr26930428969304410E06731793
chr26930449169304623E06731995
chr26930487469304924E06732378
chr26930943769310358E06736941
chr26931040269310589E06737906
chr26931063269310787E06738136
chr26931083869310960E06738342
chr26924432869244586E068-27910
chr26924480369244899E068-27597
chr26924497169245391E068-27105
chr26924763369248104E068-24392
chr26924815369248213E068-24283
chr26924827369248410E068-24086
chr26926836669268544E068-3952
chr26929402769294071E06821531
chr26929418169294231E06821685
chr26929433369294441E06821837
chr26929447369294572E06821977
chr26929473069294793E06822234
chr26929483169294894E06822335
chr26930428969304410E06831793
chr26930449169304623E06831995
chr26930487469304924E06832378
chr26930943769310358E06836941
chr26931040269310589E06837906
chr26931063269310787E06838136
chr26931083869310960E06838342
chr26931134669311398E06838850
chr26924432869244586E069-27910
chr26925774069258416E069-14080
chr26925868469258783E069-13713
chr26925878469258846E069-13650
chr26929418169294231E06921685
chr26929433369294441E06921837
chr26929447369294572E06921977
chr26929473069294793E06922234
chr26929483169294894E06922335
chr26930943769310358E06936941
chr26931040269310589E06937906
chr26931063269310787E06938136
chr26924480369244899E070-27597
chr26924763369248104E070-24392
chr26924815369248213E070-24283
chr26924827369248410E070-24086
chr26924883269248886E070-23610
chr26924970869250003E070-22493
chr26925774069258416E070-14080
chr26925868469258783E070-13713
chr26925878469258846E070-13650
chr26925897769259069E070-13427
chr26926074769261113E070-11383
chr26930428969304410E07031793
chr26930449169304623E07031995
chr26930487469304924E07032378
chr26931063269310787E07038136
chr26931083869310960E07038342
chr26924385569244220E071-28276
chr26924432869244586E071-27910
chr26924480369244899E071-27597
chr26924497169245391E071-27105
chr26924763369248104E071-24392
chr26924815369248213E071-24283
chr26924827369248410E071-24086
chr26925774069258416E071-14080
chr26925868469258783E071-13713
chr26925878469258846E071-13650
chr26925897769259069E071-13427
chr26925955969259657E071-12839
chr26926836669268544E071-3952
chr26928863569288889E07116139
chr26928918169289240E07116685
chr26928930669289368E07116810
chr26928947469289645E07116978
chr26928978069289955E07117284
chr26930428969304410E07131793
chr26930449169304623E07131995
chr26930912969309376E07136633
chr26930943769310358E07136941
chr26931040269310589E07137906
chr26931063269310787E07138136
chr26931083869310960E07138342
chr26931134669311398E07138850
chr26930428969304410E07231793
chr26930449169304623E07231995
chr26930487469304924E07232378
chr26930943769310358E07236941
chr26931040269310589E07237906
chr26926213169262237E073-10259
chr26929418169294231E07321685
chr26929433369294441E07321837
chr26929447369294572E07321977
chr26929473069294793E07322234
chr26929483169294894E07322335
chr26930912969309376E07336633
chr26930943769310358E07336941
chr26931040269310589E07337906
chr26931063269310787E07338136
chr26931083869310960E07338342
chr26931134669311398E07338850
chr26924432869244586E074-27910
chr26924497169245391E074-27105
chr26924763369248104E074-24392
chr26924815369248213E074-24283
chr26925868469258783E074-13713
chr26925878469258846E074-13650
chr26925897769259069E074-13427
chr26930428969304410E07431793
chr26930449169304623E07431995
chr26930487469304924E07432378
chr26930843669308547E07435940
chr26930912969309376E07436633
chr26930943769310358E07436941
chr26931040269310589E07437906
chr26931063269310787E07438136
chr26931083869310960E07438342
chr26931134669311398E07438850
chr26931643769316816E07443941
chr26924763369248104E081-24392
chr26924480369244899E082-27597
chr26924497169245391E082-27105
chr26924763369248104E082-24392
chr26924815369248213E082-24283
chr26924827369248410E082-24086










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr26923955669242187E067-30309
chr26923955669242187E068-30309
chr26923955669242187E069-30309
chr26923955669242187E070-30309
chr26923955669242187E071-30309
chr26923955669242187E072-30309
chr26923955669242187E073-30309
chr26923955669242187E074-30309
chr26923955669242187E081-30309
chr26923955669242187E082-30309