rs17049483

Homo sapiens
C>T
LOC105373613 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0197 (5906/29950,GnomAD)
T=0194 (5674/29118,TOPMED)
T=0215 (1078/5008,1000G)
T=0200 (772/3854,ALSPAC)
T=0202 (748/3708,TWINSUK)
chr2:129444413 (GRCh38.p7) (2q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129444413C>T
GRCh37.p13 chr 2NC_000002.11:g.130201986C>T

Gene: LOC105373613, uncharacterized LOC105373613(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373613 transcriptXR_001739710.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.806T=0.194
1000GenomesAmericanSub694C=0.740T=0.260
1000GenomesEast AsianSub1008C=0.835T=0.165
1000GenomesEuropeSub1006C=0.837T=0.163
1000GenomesGlobalStudy-wide5008C=0.785T=0.215
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.800T=0.200
The Genome Aggregation DatabaseAfricanSub8716C=0.799T=0.201
The Genome Aggregation DatabaseAmericanSub836C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1614C=0.834T=0.166
The Genome Aggregation DatabaseEuropeSub18484C=0.803T=0.196
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.802T=0.197
The Genome Aggregation DatabaseOtherSub300C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.805T=0.194
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.798T=0.202
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
rs170494830.0009nicotine dependence17158188

eQTL of rs17049483 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 rs17049483 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 )
chr2130197005130197635E070-4351
chr2130248271130248515E07146285
chr2130248798130248888E07146812
chr2130185920130186058E081-15928
chr2130194530130194810E081-7176
chr2130195124130195211E081-6775
chr2130195420130195691E081-6295
chr2130195925130196610E081-5376
chr2130197005130197635E081-4351
chr2130201651130201724E081-262
chr2130202067130202132E08181
chr2130227521130227727E08125535
chr2130236485130237093E08134499
chr2130237339130237412E08135353
chr2130237562130237687E08135576
chr2130248271130248515E08146285
chr2130248798130248888E08146812
chr2130250250130250419E08148264
chr2130154789130155073E082-46913
chr2130158519130158674E082-43312
chr2130158744130158864E082-43122
chr2130185920130186058E082-15928
chr2130194530130194810E082-7176
chr2130195124130195211E082-6775
chr2130195420130195691E082-6295
chr2130195925130196610E082-5376
chr2130197005130197635E082-4351
chr2130201651130201724E082-262
chr2130202067130202132E08281
chr2130227521130227727E08225535
chr2130236485130237093E08234499
chr2130237339130237412E08235353
chr2130237562130237687E08235576
chr2130248271130248515E08246285
chr2130250250130250419E08248264




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2130201045130201125E068-861