rs4822743

Homo sapiens
A>G
TPST2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0320 (9592/29918,GnomAD)
G=0308 (8987/29116,TOPMED)
G=0348 (1745/5008,1000G)
G=0361 (1391/3854,ALSPAC)
G=0363 (1347/3708,TWINSUK)
chr22:26585075 (GRCh38.p7) (22q12.1)
AD
GWASdb2
2   publication(s)
See rs on genome
128 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.26585075A>G
GRCh37.p13 chr 22NC_000022.10:g.26981039A>G

Gene: TPST2, tyrosylprotein sulfotransferase 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TPST2 transcript variant 2NM_003595.3:c.N/AIntron Variant
TPST2 transcript variant 1NM_001008566.1:c.N/AGenic Upstream Transcript Variant
TPST2 transcript variant X1XM_006724338.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.803G=0.197
1000GenomesAmericanSub694A=0.510G=0.490
1000GenomesEast AsianSub1008A=0.652G=0.348
1000GenomesEuropeSub1006A=0.625G=0.375
1000GenomesGlobalStudy-wide5008A=0.652G=0.348
1000GenomesSouth AsianSub978A=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.639G=0.361
The Genome Aggregation DatabaseAfricanSub8702A=0.774G=0.226
The Genome Aggregation DatabaseAmericanSub836A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1618A=0.637G=0.363
The Genome Aggregation DatabaseEuropeSub18460A=0.649G=0.351
The Genome Aggregation DatabaseGlobalStudy-wide29918A=0.679G=0.320
The Genome Aggregation DatabaseOtherSub302A=0.600G=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.691G=0.308
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.637G=0.363
PMID Title Author Journal
22832527Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes.Mozhui KTransl Psychiatry
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs48227433.2E-05alcohol dependence24277619

eQTL of rs4822743 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 rs4822743 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 )
chr222694240826942627E067-38412
chr222694264626942706E067-38333
chr222694293626942990E067-38049
chr222694307626943169E067-37870
chr222695279126953283E067-27756
chr222695350926953626E067-27413
chr222695463426954910E067-26129
chr222695500526955081E067-25958
chr222695785426957995E067-23044
chr222695800826958648E067-22391
chr222696390626964849E067-16190
chr222696612026966404E067-14635
chr222696643126966683E067-14356
chr222696674326966900E067-14139
chr222698088226981692E0670
chr222698249426983060E0671455
chr222698307426983146E0672035
chr222698315926983373E0672120
chr222700619327006794E06725154
chr222700682027006879E06725781
chr222694189726942024E068-39015
chr222694216826942273E068-38766
chr222694240826942627E068-38412
chr222694264626942706E068-38333
chr222694293626942990E068-38049
chr222694614326947058E068-33981
chr222694721926947588E068-33451
chr222695007826950180E068-30859
chr222695018626950428E068-30611
chr222695047126950599E068-30440
chr222695071626950766E068-30273
chr222695088826951342E068-29697
chr222695785426957995E068-23044
chr222696390626964849E068-16190
chr222696643126966683E068-14356
chr222696674326966900E068-14139
chr222700682027006879E06825781
chr222700696827007447E06825929
chr222701522227015323E06834183
chr222694240826942627E069-38412
chr222694264626942706E069-38333
chr222694614326947058E069-33981
chr222694809226948153E069-32886
chr222695088826951342E069-29697
chr222695147526951713E069-29326
chr222695177426951953E069-29086
chr222695279126953283E069-27756
chr222696643126966683E069-14356
chr222696674326966900E069-14139
chr222697002926970079E069-10960
chr222697036826970750E069-10289
chr222698088226981692E0690
chr222700619327006794E06925154
chr222700682027006879E06925781
chr222700696827007447E06925929
chr222695088826951342E070-29697
chr222695147526951713E070-29326
chr222695177426951953E070-29086
chr222695422926954410E071-26629
chr222695447826954591E071-26448
chr222695463426954910E071-26129
chr222695785426957995E071-23044
chr222695800826958648E071-22391
chr222696390626964849E071-16190
chr222696521126965361E071-15678
chr222698088226981692E0710
chr222700619327006794E07125154
chr222700682027006879E07125781
chr222700696827007447E07125929
chr222701230827012418E07131269
chr222701245927012499E07131420
chr222694216826942273E072-38766
chr222694240826942627E072-38412
chr222694264626942706E072-38333
chr222694293626942990E072-38049
chr222695147526951713E072-29326
chr222695177426951953E072-29086
chr222695279126953283E072-27756
chr222695422926954410E072-26629
chr222695447826954591E072-26448
chr222695463426954910E072-26129
chr222695800826958648E072-22391
chr222696390626964849E072-16190
chr222696612026966404E072-14635
chr222696643126966683E072-14356
chr222696674326966900E072-14139
chr222696700226967074E072-13965
chr222696714426967329E072-13710
chr222698088226981692E0720
chr222698795326988852E0726914
chr222698885426988950E0727815
chr222700682027006879E07225781
chr222694264626942706E073-38333
chr222694614326947058E073-33981
chr222695147526951713E073-29326
chr222695177426951953E073-29086
chr222695279126953283E073-27756
chr222695422926954410E073-26629
chr222695447826954591E073-26448
chr222695463426954910E073-26129
chr222695599726956352E073-24687
chr222695785426957995E073-23044
chr222695800826958648E073-22391
chr222695891526958968E073-22071
chr222695898826959304E073-21735
chr222696348526963535E073-17504
chr222696390626964849E073-16190
chr222696612026966404E073-14635
chr222696643126966683E073-14356
chr222696674326966900E073-14139
chr222696862426968674E073-12365
chr222696867826968728E073-12311
chr222698088226981692E0730
chr222698307426983146E0732035
chr222700619327006794E07325154
chr222700682027006879E07325781
chr222700696827007447E07325929
chr222695007826950180E074-30859
chr222695018626950428E074-30611
chr222695047126950599E074-30440
chr222695071626950766E074-30273
chr222695088826951342E074-29697
chr222695147526951713E074-29326
chr222695177426951953E074-29086
chr222700682027006879E07425781
chr222696612026966404E081-14635
chr222696643126966683E081-14356
chr222696674326966900E081-14139









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222698455426986979E0673515
chr222698455426986979E0683515
chr222698455426986979E0693515
chr222698455426986979E0703515
chr222698455426986979E0713515
chr222698455426986979E0723515
chr222698455426986979E0733515
chr222698455426986979E0743515
chr222698455426986979E0813515
chr222698455426986979E0823515