rs3980213

Homo sapiens
A>G
RALB : Intron Variant
LOC105373583 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0311 (9309/29924,GnomAD)
A==0262 (7635/29116,TOPMED)
A==0362 (1812/5008,1000G)
A==0298 (1148/3854,ALSPAC)
A==0311 (1153/3708,TWINSUK)
chr2:120247403 (GRCh38.p7) (2q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.120247403A>G
GRCh37.p13 chr 2NC_000002.11:g.121004979A>G

Gene: RALB, v-ral simian leukemia viral oncogene homolog B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RALB transcriptNM_002881.2:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X3XM_005263724.1:c.N/AIntron Variant
RALB transcript variant X1XM_011511573.1:c.N/AIntron Variant
RALB transcript variant X4XM_005263727.1:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X2XM_005263728.1:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X6XM_005263729.2:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X3XM_011511574.1:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X2XM_017004621.1:c.N/AGenic Upstream Transcript Variant
RALB transcript variant X7XM_017004622.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC105373583, uncharacterized LOC105373583(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105373583 transcriptXR_923259.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.199G=0.801
1000GenomesAmericanSub694A=0.420G=0.580
1000GenomesEast AsianSub1008A=0.593G=0.407
1000GenomesEuropeSub1006A=0.292G=0.708
1000GenomesGlobalStudy-wide5008A=0.362G=0.638
1000GenomesSouth AsianSub978A=0.370G=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.298G=0.702
The Genome Aggregation DatabaseAfricanSub8718A=0.201G=0.799
The Genome Aggregation DatabaseAmericanSub836A=0.460G=0.540
The Genome Aggregation DatabaseEast AsianSub1616A=0.588G=0.412
The Genome Aggregation DatabaseEuropeSub18452A=0.334G=0.665
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.311G=0.688
The Genome Aggregation DatabaseOtherSub302A=0.160G=0.840
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.262G=0.737
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.311G=0.689
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs39802130.00061alcohol dependence20201924

eQTL of rs3980213 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 rs3980213 in Fetal Brain

Probe ID Position Gene beta p-value
cg24070213chr2:121070622-0.01447419871432687.1446e-10

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 )
chr2120977536120977699E067-27280
chr2120978514120978667E067-26312
chr2120979385120979502E067-25477
chr2120979854120979911E067-25068
chr2120981847120981897E067-23082
chr2121035799121035891E06730820
chr2121035975121036364E06730996
chr2120979385120979502E068-25477
chr2121012177121012217E0687198
chr2121012721121012825E0687742
chr2121012883121013032E0687904
chr2121013183121013255E0688204
chr2120978514120978667E069-26312
chr2120979385120979502E069-25477
chr2120981847120981897E069-23082
chr2121012721121012825E0697742
chr2121035799121035891E06930820
chr2121035975121036364E06930996
chr2120978514120978667E070-26312
chr2120979385120979502E070-25477
chr2120981847120981897E070-23082
chr2120982062120982401E070-22578
chr2121008935121009057E0703956
chr2121012177121012217E0707198
chr2121015796121016015E07010817
chr2120979385120979502E071-25477
chr2120979854120979911E071-25068
chr2120981847120981897E071-23082
chr2121012721121012825E0717742
chr2121012883121013032E0717904
chr2121013183121013255E0718204
chr2121015185121015387E07110206
chr2121035975121036364E07130996
chr2120978514120978667E072-26312
chr2120979385120979502E072-25477
chr2120981847120981897E072-23082
chr2121012177121012217E0727198
chr2121012883121013032E0727904
chr2121035975121036364E07230996
chr2120982062120982401E073-22578
chr2120986207120986356E073-18623
chr2120978514120978667E074-26312
chr2120979385120979502E074-25477
chr2120979854120979911E074-25068
chr2121012177121012217E0747198
chr2121015185121015387E07410206
chr2121035799121035891E07430820
chr2121035975121036364E07430996
chr2120979385120979502E081-25477
chr2120979854120979911E081-25068
chr2120981847120981897E081-23082
chr2120982062120982401E081-22578
chr2121012177121012217E0817198
chr2121012721121012825E0817742
chr2120981847120981897E082-23082
chr2121012177121012217E0827198
chr2121012721121012825E0827742
chr2121012883121013032E0827904
chr2121013183121013255E0828204










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2120980188120981630E067-23349
chr2120989211120990426E067-14553
chr2121009569121011524E0674590
chr2120980188120981630E068-23349
chr2120989211120990426E068-14553
chr2121009569121011524E0684590
chr2120980188120981630E069-23349
chr2120989211120990426E069-14553
chr2121009569121011524E0694590
chr2120980188120981630E070-23349
chr2121009569121011524E0704590
chr2120980188120981630E071-23349
chr2120989211120990426E071-14553
chr2121009569121011524E0714590
chr2120980188120981630E072-23349
chr2121009569121011524E0724590
chr2120980188120981630E073-23349
chr2121009569121011524E0734590
chr2120980188120981630E074-23349
chr2120989211120990426E074-14553
chr2121009569121011524E0744590
chr2121009569121011524E0814590
chr2120980188120981630E082-23349
chr2121009569121011524E0824590