rs4743850

Homo sapiens
C>A
LOC105376147 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0192 (5769/29962,GnomAD)
C==0206 (6024/29118,TOPMED)
C==0194 (973/5008,1000G)
C==0212 (818/3854,ALSPAC)
C==0206 (765/3708,TWINSUK)
chr9:91700719 (GRCh38.p7) (9q22.31)
ND
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.91700719C>A
GRCh37.p13 chr 9NC_000009.11:g.94463001C>A

Gene: LOC105376147, uncharacterized LOC105376147(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376147 transcriptXR_930123.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.200A=0.800
1000GenomesAmericanSub694C=0.130A=0.870
1000GenomesEast AsianSub1008C=0.082A=0.918
1000GenomesEuropeSub1006C=0.213A=0.787
1000GenomesGlobalStudy-wide5008C=0.194A=0.806
1000GenomesSouth AsianSub978C=0.330A=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.212A=0.788
The Genome Aggregation DatabaseAfricanSub8718C=0.202A=0.798
The Genome Aggregation DatabaseAmericanSub838C=0.130A=0.870
The Genome Aggregation DatabaseEast AsianSub1622C=0.078A=0.922
The Genome Aggregation DatabaseEuropeSub18482C=0.199A=0.800
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.192A=0.807
The Genome Aggregation DatabaseOtherSub302C=0.310A=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.206A=0.793
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.206A=0.794
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
rs47438500.000767nicotine dependence17158188

eQTL of rs4743850 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 rs4743850 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 )
chr99442696794427246E070-35755
chr99442729594427488E070-35513
chr99445322494453434E070-9567
chr99447501094475050E07012009
chr99447517894475255E07012177
chr99447501094475050E07112009
chr99447517894475255E07112177
chr99442076394420817E081-42184
chr99442097694421048E081-41953
chr99442108694421193E081-41808
chr99442133394421373E081-41628
chr99442196794422698E081-40303
chr99442275094423157E081-39844
chr99442329394423368E081-39633
chr99442355794424194E081-38807
chr99443966194439996E081-23005
chr99444006794440207E081-22794
chr99444449694444608E081-18393
chr99442696794427246E082-35755




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr99444376594444383E067-18618
chr99444376594444383E068-18618
chr99444376594444383E069-18618
chr99444376594444383E071-18618
chr99447656994477079E07113568
chr99444376594444383E072-18618
chr99447656994477079E07213568
chr99447712394477208E07214122
chr99444376594444383E073-18618
chr99444376594444383E082-18618
chr99447656994477079E08213568
chr99447712394477208E08214122