rs4356720

Homo sapiens
A>G
TSHZ2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0094 (2837/29958,GnomAD)
G=0129 (3756/29118,TOPMED)
G=0124 (619/5008,1000G)
G=0007 (28/3854,ALSPAC)
G=0007 (25/3708,TWINSUK)
chr20:53055771 (GRCh38.p7) (20q13.2)
AD
GWASCatalog
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.53055771A>G
GRCh37.p13 chr 20NC_000020.10:g.51672310A>G

Gene: TSHZ2, teashirt zinc finger homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TSHZ2 transcript variant 1NM_173485.5:c.N/AIntron Variant
TSHZ2 transcript variant 2NM_001193421.1:c.N/AGenic Upstream Transcript Variant
TSHZ2 transcript variant X1XM_017027640.1:c.N/AIntron Variant
TSHZ2 transcript variant X2XM_017027641.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.683G=0.317
1000GenomesAmericanSub694A=0.970G=0.030
1000GenomesEast AsianSub1008A=0.885G=0.115
1000GenomesEuropeSub1006A=0.989G=0.011
1000GenomesGlobalStudy-wide5008A=0.876G=0.124
1000GenomesSouth AsianSub978A=0.940G=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.993G=0.007
The Genome Aggregation DatabaseAfricanSub8700A=0.723G=0.277
The Genome Aggregation DatabaseAmericanSub838A=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1612A=0.864G=0.136
The Genome Aggregation DatabaseEuropeSub18506A=0.990G=0.009
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.905G=0.094
The Genome Aggregation DatabaseOtherSub302A=0.990G=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.871G=0.129
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.993G=0.007
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs43567209E-06alcohol consumption measurement29460428

eQTL of rs4356720 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 rs4356720 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 )
chr205165696951657035E070-15275
chr205165713751657943E070-14367
chr205168716751687308E07014857
chr205168731151687477E07015001
chr205171696151717488E07044651
chr205171759751717778E07045287
chr205171795451718079E07045644
chr205165713751657943E074-14367
chr205165798451658170E074-14140
chr205169202651692245E08119716
chr205169225051692302E08119940
chr205169246451692548E08120154
chr205169262351692722E08120313
chr205169280051692863E08120490
chr205169292251693141E08120612
chr205169330351693519E08120993
chr205169357451693685E08121264
chr205165696951657035E082-15275
chr205165713751657943E082-14367
chr205165798451658170E082-14140
chr205171696151717488E08244651
chr205171759751717778E08245287