rs2100290

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0422 (12614/29892,GnomAD)
G=0360 (10492/29116,TOPMED)
G=0383 (1916/5008,1000G)
A==0494 (1903/3854,ALSPAC)
A==0494 (1832/3708,TWINSUK)
chr2:79405221 (GRCh38.p7) (2p12)
ND | AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.79405221A>G
GRCh37.p13 chr 2NC_000002.11:g.79632347A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.811G=0.189
1000GenomesAmericanSub694A=0.500G=0.500
1000GenomesEast AsianSub1008A=0.615G=0.385
1000GenomesEuropeSub1006A=0.518G=0.482
1000GenomesGlobalStudy-wide5008A=0.617G=0.383
1000GenomesSouth AsianSub978A=0.540G=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.494G=0.506
The Genome Aggregation DatabaseAfricanSub8708A=0.756G=0.244
The Genome Aggregation DatabaseAmericanSub838A=0.500G=0.500
The Genome Aggregation DatabaseEast AsianSub1574A=0.597G=0.403
The Genome Aggregation DatabaseEuropeSub18470A=0.496G=0.503
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.578G=0.422
The Genome Aggregation DatabaseOtherSub302A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.639G=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.494G=0.506
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs21002900.000002alcohol consumption23942779
rs21002900.00028nicotine use23942779

eQTL of rs2100290 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 rs2100290 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 )
chr27959317079593384E067-38963
chr27960101179601196E067-31151
chr27965966079660312E06727313
chr27966463679664911E06732289
chr27966494079665236E06732593
chr27959317079593384E068-38963
chr27959804979598191E068-34156
chr27959841479598561E068-33786
chr27961468079614857E068-17490
chr27961549079615540E068-16807
chr27961638779617274E068-15073
chr27962029279620336E068-12011
chr27962063379620703E068-11644
chr27959317079593384E069-38963
chr27965966079660312E06927313
chr27965966079660312E07027313
chr27959317079593384E071-38963
chr27959804979598191E071-34156
chr27961468079614857E071-17490
chr27962029279620336E071-12011
chr27962063379620703E071-11644
chr27965966079660312E07127313
chr27959317079593384E072-38963
chr27965966079660312E07227313
chr27959804979598191E073-34156
chr27959841479598561E073-33786
chr27959317079593384E074-38963
chr27961468079614857E074-17490
chr27962081679621462E074-10885
chr27965966079660312E07427313
chr27962081679621462E081-10885
chr27965966079660312E08127313
chr27965966079660312E08227313