rs2027290

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
A==0348 (10343/29700,GnomAD)
A==0317 (9243/29118,TOPMED)
A==0389 (1948/5008,1000G)
A==0377 (1453/3854,ALSPAC)
A==0370 (1371/3708,TWINSUK)
chr1:164485313 (GRCh38.p7) (1q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.164485313A>C
GRCh37.p13 chr 1NC_000001.10:g.164454550A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.222C=0.778
1000GenomesAmericanSub694A=0.440C=0.560
1000GenomesEast AsianSub1008A=0.614C=0.386
1000GenomesEuropeSub1006A=0.352C=0.648
1000GenomesGlobalStudy-wide5008A=0.389C=0.611
1000GenomesSouth AsianSub978A=0.380C=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.377C=0.623
The Genome Aggregation DatabaseAfricanSub8688A=0.228C=0.772
The Genome Aggregation DatabaseAmericanSub838A=0.480C=0.520
The Genome Aggregation DatabaseEast AsianSub1610A=0.645C=0.355
The Genome Aggregation DatabaseEuropeSub18264A=0.373C=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29700A=0.348C=0.651
The Genome Aggregation DatabaseOtherSub300A=0.350C=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.317C=0.682
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.370C=0.630
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
rs20272900.000142nicotine dependence17158188

eQTL of rs2027290 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 rs2027290 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 )
chr1164484533164484759E06729983
chr1164484975164485125E06730425
chr1164485293164485545E06730743
chr1164487988164488543E06733438
chr1164488836164489003E06734286
chr1164485293164485545E06830743
chr1164485708164485758E06831158
chr1164484533164484759E06929983
chr1164485293164485545E06930743
chr1164487988164488543E06933438
chr1164488836164489003E06934286
chr1164465168164465714E07010618
chr1164465758164465935E07011208
chr1164485293164485545E07030743
chr1164485708164485758E07031158
chr1164487988164488543E07033438
chr1164488836164489003E07034286
chr1164487988164488543E07133438
chr1164488836164489003E07134286
chr1164409285164409913E072-44637
chr1164484533164484759E07229983
chr1164484975164485125E07230425
chr1164485293164485545E07230743
chr1164487988164488543E07233438
chr1164488836164489003E07234286
chr1164484975164485125E07430425
chr1164485293164485545E07430743
chr1164487530164487604E07432980
chr1164487988164488543E07433438
chr1164488836164489003E07434286
chr1164487988164488543E08133438
chr1164487988164488543E08233438
chr1164488836164489003E08234286