rs1370379

Homo sapiens
C>T
RALB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0317 (9519/29946,GnomAD)
C==0269 (7831/29116,TOPMED)
C==0368 (1844/5008,1000G)
C==0298 (1147/3854,ALSPAC)
C==0313 (1159/3708,TWINSUK)
chr2:120257013 (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.120257013C>T
GRCh37.p13 chr 2NC_000002.11:g.121014589C>T

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/AIntron Variant
RALB transcript variant X3XM_005263724.1:c.N/AIntron Variant
RALB transcript variant X4XM_005263727.1:c.N/AIntron Variant
RALB transcript variant X2XM_005263728.1:c.N/AIntron Variant
RALB transcript variant X6XM_005263729.2:c.N/AIntron Variant
RALB transcript variant X1XM_011511573.1:c.N/AIntron Variant
RALB transcript variant X3XM_011511574.1:c.N/AIntron Variant
RALB transcript variant X7XM_017004622.1:c.N/AIntron Variant
RALB transcript variant X2XM_017004621.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.222T=0.778
1000GenomesAmericanSub694C=0.420T=0.580
1000GenomesEast AsianSub1008C=0.595T=0.405
1000GenomesEuropeSub1006C=0.292T=0.708
1000GenomesGlobalStudy-wide5008C=0.368T=0.632
1000GenomesSouth AsianSub978C=0.370T=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.298T=0.702
The Genome Aggregation DatabaseAfricanSub8714C=0.223T=0.777
The Genome Aggregation DatabaseAmericanSub838C=0.460T=0.540
The Genome Aggregation DatabaseEast AsianSub1616C=0.597T=0.403
The Genome Aggregation DatabaseEuropeSub18476C=0.334T=0.665
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.317T=0.682
The Genome Aggregation DatabaseOtherSub302C=0.170T=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.269T=0.731
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.313T=0.687
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
rs13703790.0005alcohol dependence20201924

eQTL of rs1370379 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:121014589RALBENSG00000144118.9C>T9.0475e-316949Cortex

meQTL of rs1370379 in Fetal Brain

Probe ID Position Gene beta p-value
cg24070213chr2:121070622-0.01399176056964855.5126e-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 )
chr2120977536120977699E067-36890
chr2120978514120978667E067-35922
chr2120979385120979502E067-35087
chr2120979854120979911E067-34678
chr2120981847120981897E067-32692
chr2121035799121035891E06721210
chr2121035975121036364E06721386
chr2120979385120979502E068-35087
chr2121012177121012217E068-2372
chr2121012721121012825E068-1764
chr2121012883121013032E068-1557
chr2121013183121013255E068-1334
chr2120978514120978667E069-35922
chr2120979385120979502E069-35087
chr2120981847120981897E069-32692
chr2121012721121012825E069-1764
chr2121035799121035891E06921210
chr2121035975121036364E06921386
chr2120978514120978667E070-35922
chr2120979385120979502E070-35087
chr2120981847120981897E070-32692
chr2120982062120982401E070-32188
chr2121008935121009057E070-5532
chr2121012177121012217E070-2372
chr2121015796121016015E0701207
chr2120979385120979502E071-35087
chr2120979854120979911E071-34678
chr2120981847120981897E071-32692
chr2121012721121012825E071-1764
chr2121012883121013032E071-1557
chr2121013183121013255E071-1334
chr2121015185121015387E071596
chr2121035975121036364E07121386
chr2120978514120978667E072-35922
chr2120979385120979502E072-35087
chr2120981847120981897E072-32692
chr2121012177121012217E072-2372
chr2121012883121013032E072-1557
chr2121035975121036364E07221386
chr2120982062120982401E073-32188
chr2120986207120986356E073-28233
chr2120978514120978667E074-35922
chr2120979385120979502E074-35087
chr2120979854120979911E074-34678
chr2121012177121012217E074-2372
chr2121015185121015387E074596
chr2121035799121035891E07421210
chr2121035975121036364E07421386
chr2120979385120979502E081-35087
chr2120979854120979911E081-34678
chr2120981847120981897E081-32692
chr2120982062120982401E081-32188
chr2121012177121012217E081-2372
chr2121012721121012825E081-1764
chr2120981847120981897E082-32692
chr2121012177121012217E082-2372
chr2121012721121012825E082-1764
chr2121012883121013032E082-1557
chr2121013183121013255E082-1334










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2120980188120981630E067-32959
chr2120989211120990426E067-24163
chr2121009569121011524E067-3065
chr2120980188120981630E068-32959
chr2120989211120990426E068-24163
chr2121009569121011524E068-3065
chr2120980188120981630E069-32959
chr2120989211120990426E069-24163
chr2121009569121011524E069-3065
chr2120980188120981630E070-32959
chr2121009569121011524E070-3065
chr2120980188120981630E071-32959
chr2120989211120990426E071-24163
chr2121009569121011524E071-3065
chr2120980188120981630E072-32959
chr2121009569121011524E072-3065
chr2120980188120981630E073-32959
chr2121009569121011524E073-3065
chr2120980188120981630E074-32959
chr2120989211120990426E074-24163
chr2121009569121011524E074-3065
chr2121009569121011524E081-3065
chr2120980188120981630E082-32959
chr2121009569121011524E082-3065