rs2107331

Homo sapiens
C>A
TGFBI : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0458 (13700/29876,GnomAD)
C==0459 (13389/29118,TOPMED)
C==0451 (2258/5008,1000G)
A=0476 (1833/3854,ALSPAC)
A=0471 (1745/3708,TWINSUK)
chr5:136041660 (GRCh38.p7) (5q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.136041660C>A
GRCh37.p13 chr 5NC_000005.9:g.135377349C>A
TGFBI RefSeqGeneNG_012646.1:g.17766C>A

Gene: TGFBI, transforming growth factor beta induced(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TGFBI transcriptNM_000358.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.337A=0.663
1000GenomesAmericanSub694C=0.530A=0.470
1000GenomesEast AsianSub1008C=0.420A=0.580
1000GenomesEuropeSub1006C=0.522A=0.478
1000GenomesGlobalStudy-wide5008C=0.451A=0.549
1000GenomesSouth AsianSub978C=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.524A=0.476
The Genome Aggregation DatabaseAfricanSub8692C=0.353A=0.647
The Genome Aggregation DatabaseAmericanSub836C=0.510A=0.490
The Genome Aggregation DatabaseEast AsianSub1608C=0.433A=0.567
The Genome Aggregation DatabaseEuropeSub18442C=0.507A=0.492
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.458A=0.541
The Genome Aggregation DatabaseOtherSub298C=0.480A=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.459A=0.540
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.529A=0.471
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
rs21073310.000324alcohol dependence20201924

eQTL of rs2107331 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 rs2107331 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 )
chr5135352547135353199E068-24150
chr5135352092135352206E070-25143
chr5135352372135352522E070-24827
chr5135352547135353199E070-24150
chr5135370273135370522E070-6827
chr5135370759135371017E070-6332
chr5135371413135371656E070-5693
chr5135349099135349216E071-28133
chr5135350464135350627E071-26722
chr5135350740135350831E071-26518
chr5135352092135352206E071-25143
chr5135352547135353199E071-24150
chr5135360307135360367E074-16982
chr5135369559135369900E081-7449
chr5135370273135370522E081-6827
chr5135370759135371017E081-6332
chr5135371413135371656E081-5693
chr5135371677135371821E081-5528
chr5135371969135372066E081-5283
chr5135372140135372225E081-5124
chr5135372541135372711E081-4638
chr5135372720135373432E081-3917
chr5135373698135373821E081-3528
chr5135406397135407012E08129048
chr5135422511135422918E08145162
chr5135352547135353199E082-24150
chr5135369559135369900E082-7449
chr5135370273135370522E082-6827
chr5135370759135371017E082-6332
chr5135372541135372711E082-4638
chr5135372720135373432E082-3917
chr5135420494135420674E08243145






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5135365265135365325E067-12024
chr5135365342135365402E067-11947
chr5135415719135417086E06738370
chr5135364384135365159E068-12190
chr5135415719135417086E06838370
chr5135365265135365325E071-12024
chr5135365342135365402E071-11947
chr5135415719135417086E07138370
chr5135415542135415676E07238193
chr5135415719135417086E07238370
chr5135415719135417086E07338370
chr5135364384135365159E074-12190
chr5135415719135417086E07438370
chr5135415719135417086E08238370