rs2180813

Homo sapiens
C>T
LOC105370635 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0139 (4161/29904,GnomAD)
T=0115 (3348/29118,TOPMED)
T=0182 (911/5008,1000G)
T=0183 (706/3854,ALSPAC)
T=0163 (606/3708,TWINSUK)
chr14:94461803 (GRCh38.p7) (14q32.13)
ND
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.94461803C>T
GRCh37.p13 chr 14NC_000014.8:g.94928140C>T

Gene: LOC105370635, uncharacterized LOC105370635(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370635 transcriptXR_944169.2:n.232C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.977T=0.023
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.720T=0.280
1000GenomesEuropeSub1006C=0.857T=0.143
1000GenomesGlobalStudy-wide5008C=0.818T=0.182
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.817T=0.183
The Genome Aggregation DatabaseAfricanSub8718C=0.954T=0.046
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1620C=0.722T=0.278
The Genome Aggregation DatabaseEuropeSub18426C=0.831T=0.168
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.860T=0.139
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.885T=0.115
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.837T=0.163
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
rs21808130.000252nicotine dependence17158188

eQTL of rs2180813 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 rs2180813 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 )
chr149495233194953489E06724191
chr149495431394954381E06926173
chr149491780794918241E070-9899
chr149491828594918645E070-9495
chr149495233194953489E07124191
chr149495233194953489E07224191
chr149495233194953489E07424191
chr149495233194953489E08124191
chr149495350194953576E08125361
chr149495364594953695E08125505
chr149495386094953910E08125720
chr149495431394954381E08126173
chr149495233194953489E08224191