rs13293006

Homo sapiens
C>A
RORB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0313 (9360/29816,GnomAD)
A=0257 (7492/29118,TOPMED)
A=0246 (1232/5008,1000G)
A=0403 (1554/3854,ALSPAC)
A=0411 (1523/3708,TWINSUK)
chr9:74521980 (GRCh38.p7) (9q21.13)
ND
GWASdb2
1   publication(s)
See rs on genome
108 Enhancers around
64 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.74521980C>A
GRCh37.p13 chr 9NC_000009.11:g.77136896C>A
RORB RefSeqGeneNG_046926.1:g.29645C>A

Gene: RORB, RAR related orphan receptor B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RORB transcriptNM_006914.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.968A=0.032
1000GenomesAmericanSub694C=0.790A=0.210
1000GenomesEast AsianSub1008C=0.803A=0.197
1000GenomesEuropeSub1006C=0.550A=0.450
1000GenomesGlobalStudy-wide5008C=0.754A=0.246
1000GenomesSouth AsianSub978C=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.597A=0.403
The Genome Aggregation DatabaseAfricanSub8712C=0.919A=0.081
The Genome Aggregation DatabaseAmericanSub838C=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1564C=0.855A=0.145
The Genome Aggregation DatabaseEuropeSub18400C=0.560A=0.439
The Genome Aggregation DatabaseGlobalStudy-wide29816C=0.686A=0.313
The Genome Aggregation DatabaseOtherSub302C=0.600A=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.742A=0.257
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.589A=0.411
PMID Title Author Journal
18227835Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.Berrettini WMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs132930060.000592nicotine dependence18227835

eQTL of rs13293006 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 rs13293006 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 )
chr97713080177130881E067-6015
chr97713098077131030E067-5866
chr97714065877140724E0673762
chr97715783077157880E06720934
chr97715798777158133E06721091
chr97715819677158339E06721300
chr97715875477158804E06721858
chr97715889277158972E06721996
chr97715915277159378E06722256
chr97716905177169111E06732155
chr97716915677169216E06732260
chr97716921777169285E06732321
chr97716931277169360E06732416
chr97713609777136238E068-658
chr97715783077157880E06820934
chr97715798777158133E06821091
chr97715819677158339E06821300
chr97715875477158804E06821858
chr97715889277158972E06821996
chr97715915277159378E06822256
chr97716905177169111E06832155
chr97716915677169216E06832260
chr97716921777169285E06832321
chr97716931277169360E06832416
chr97717136277171985E06834466
chr97717200577172113E06835109
chr97717936777179427E06842471
chr97715783077157880E06920934
chr97715798777158133E06921091
chr97715819677158339E06921300
chr97715875477158804E06921858
chr97715889277158972E06921996
chr97715915277159378E06922256
chr97716971777169802E06932821
chr97717001677170291E06933120
chr97717047377170541E06933577
chr97717057077170690E06933674
chr97717200577172113E06935109
chr97717229977172405E06935403
chr97711812677118237E070-18659
chr97711840877118467E070-18429
chr97711852077118570E070-18326
chr97714960177149651E07012705
chr97714979877150040E07012902
chr97716915677169216E07032260
chr97716921777169285E07032321
chr97716931277169360E07032416
chr97717047377170541E07033577
chr97717057077170690E07033674
chr97717095877171012E07034062
chr97717118177171240E07034285
chr97715783077157880E07120934
chr97715798777158133E07121091
chr97715819677158339E07121300
chr97715875477158804E07121858
chr97715889277158972E07121996
chr97715915277159378E07122256
chr97716915677169216E07132260
chr97716921777169285E07132321
chr97716931277169360E07132416
chr97717047377170541E07133577
chr97717057077170690E07133674
chr97717095877171012E07134062
chr97717118177171240E07134285
chr97712146077121576E072-15320
chr97712157977121629E072-15267
chr97712204177122091E072-14805
chr97714960177149651E07212705
chr97714979877150040E07212902
chr97715783077157880E07220934
chr97715798777158133E07221091
chr97715819677158339E07221300
chr97715875477158804E07221858
chr97715889277158972E07221996
chr97715915277159378E07222256
chr97716971777169802E07232821
chr97716991277170007E07233016
chr97717047377170541E07233577
chr97717057077170690E07233674
chr97717095877171012E07234062
chr97717118177171240E07234285
chr97717136277171985E07234466
chr97717881977178873E07241923
chr97717936777179427E07242471
chr97715798777158133E07321091
chr97715819677158339E07321300
chr97715875477158804E07321858
chr97715889277158972E07321996
chr97715915277159378E07322256
chr97716915677169216E07332260
chr97716921777169285E07332321
chr97716931277169360E07332416
chr97716971777169802E07332821
chr97716991277170007E07333016
chr97714145177141623E0744555
chr97714168977141750E0744793
chr97715798777158133E07421091
chr97715819677158339E07421300
chr97715875477158804E07421858
chr97715889277158972E07421996
chr97715915277159378E07422256
chr97716971777169802E07432821
chr97714960177149651E08112705
chr97714979877150040E08112902
chr97715025977150309E08113363
chr97716971777169802E08132821
chr97716991277170007E08133016
chr97717001677170291E08133120









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr97711143977111623E067-25273
chr97711163477115990E067-20906
chr97711600877116173E067-20723
chr97711624077116294E067-20602
chr97714077877140862E0673882
chr97714099977141069E0674103
chr97714117177141361E0674275
chr97711096177111020E068-25876
chr97711114577111195E068-25701
chr97711130877111393E068-25503
chr97711143977111623E068-25273
chr97711163477115990E068-20906
chr97711600877116173E068-20723
chr97714077877140862E0683882
chr97714099977141069E0684103
chr97714117177141361E0684275
chr97711096177111020E069-25876
chr97711114577111195E069-25701
chr97711130877111393E069-25503
chr97711143977111623E069-25273
chr97711163477115990E069-20906
chr97711600877116173E069-20723
chr97714077877140862E0693882
chr97714099977141069E0694103
chr97714117177141361E0694275
chr97711143977111623E070-25273
chr97711624077116294E070-20602
chr97711096177111020E071-25876
chr97711114577111195E071-25701
chr97711130877111393E071-25503
chr97711143977111623E071-25273
chr97711163477115990E071-20906
chr97714077877140862E0713882
chr97714099977141069E0714103
chr97714117177141361E0714275
chr97711096177111020E072-25876
chr97711114577111195E072-25701
chr97711130877111393E072-25503
chr97711143977111623E072-25273
chr97711163477115990E072-20906
chr97711600877116173E072-20723
chr97711624077116294E072-20602
chr97714077877140862E0723882
chr97714099977141069E0724103
chr97714117177141361E0724275
chr97711096177111020E073-25876
chr97711114577111195E073-25701
chr97711130877111393E073-25503
chr97711143977111623E073-25273
chr97711163477115990E073-20906
chr97711600877116173E073-20723
chr97711624077116294E073-20602
chr97714077877140862E0733882
chr97714099977141069E0734103
chr97714117177141361E0734275
chr97711143977111623E074-25273
chr97711163477115990E074-20906
chr97714077877140862E0743882
chr97714099977141069E0744103
chr97714117177141361E0744275
chr97711163477115990E081-20906
chr97711143977111623E082-25273
chr97711163477115990E082-20906
chr97711624077116294E082-20602