rs2283825

Homo sapiens
C>T
TPST2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0180 (5406/29956,GnomAD)
T=0204 (5952/29116,TOPMED)
T=0144 (722/5008,1000G)
T=0198 (763/3854,ALSPAC)
T=0183 (679/3708,TWINSUK)
chr22:26528569 (GRCh38.p7) (22q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
201 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.26528569C>T
GRCh37.p13 chr 22NC_000022.10:g.26924535C>T

Gene: TPST2, tyrosylprotein sulfotransferase 2(minus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.781T=0.219
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.902T=0.098
1000GenomesEuropeSub1006C=0.832T=0.168
1000GenomesGlobalStudy-wide5008C=0.856T=0.144
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.802T=0.198
The Genome Aggregation DatabaseAfricanSub8718C=0.774T=0.226
The Genome Aggregation DatabaseAmericanSub838C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1612C=0.908T=0.092
The Genome Aggregation DatabaseEuropeSub18486C=0.829T=0.170
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.819T=0.180
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.795T=0.204
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.817T=0.183
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22838250.000843alcohol dependence21314694

eQTL of rs2283825 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr22:26924535CTA-445C9.15ENSG00000260065.1C>T7.5720e-253533Frontal_Cortex_BA9
Chr22:26924535CTA-445C9.15ENSG00000260065.1C>T0.0000e+03533Cortex
Chr22:26924535CTA-445C9.15ENSG00000260065.1C>T5.0000e-273533Caudate_basal_ganglia

meQTL of rs2283825 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 )
chr222687644426876585E067-47950
chr222687709526877322E067-47213
chr222687739926877504E067-47031
chr222687765926878175E067-46360
chr222687817726878486E067-46049
chr222688161126881674E067-42861
chr222688176526881892E067-42643
chr222688191726882087E067-42448
chr222689851326899651E067-24884
chr222690676526906805E067-17730
chr222690696326907155E067-17380
chr222690970426909789E067-14746
chr222690983826910308E067-14227
chr222691038526910456E067-14079
chr222691168226912478E067-12057
chr222694240826942627E06717873
chr222694264626942706E06718111
chr222694293626942990E06718401
chr222694307626943169E06718541
chr222695279126953283E06728256
chr222695350926953626E06728974
chr222695463426954910E06730099
chr222695500526955081E06730470
chr222695785426957995E06733319
chr222695800826958648E06733473
chr222696390626964849E06739371
chr222696612026966404E06741585
chr222696643126966683E06741896
chr222696674326966900E06742208
chr222687644426876585E068-47950
chr222687709526877322E068-47213
chr222687739926877504E068-47031
chr222687765926878175E068-46360
chr222687817726878486E068-46049
chr222688081326881400E068-43135
chr222689851326899651E068-24884
chr222689970426900317E068-24218
chr222690059026900635E068-23900
chr222694189726942024E06817362
chr222694216826942273E06817633
chr222694240826942627E06817873
chr222694264626942706E06818111
chr222694293626942990E06818401
chr222694614326947058E06821608
chr222694721926947588E06822684
chr222695007826950180E06825543
chr222695018626950428E06825651
chr222695047126950599E06825936
chr222695071626950766E06826181
chr222695088826951342E06826353
chr222695785426957995E06833319
chr222696390626964849E06839371
chr222696643126966683E06841896
chr222696674326966900E06842208
chr222687644426876585E069-47950
chr222687709526877322E069-47213
chr222687739926877504E069-47031
chr222687765926878175E069-46360
chr222687817726878486E069-46049
chr222688081326881400E069-43135
chr222688161126881674E069-42861
chr222688176526881892E069-42643
chr222688191726882087E069-42448
chr222689851326899651E069-24884
chr222689970426900317E069-24218
chr222690970426909789E069-14746
chr222690983826910308E069-14227
chr222694240826942627E06917873
chr222694264626942706E06918111
chr222694614326947058E06921608
chr222694809226948153E06923557
chr222695088826951342E06926353
chr222695147526951713E06926940
chr222695177426951953E06927239
chr222695279126953283E06928256
chr222696643126966683E06941896
chr222696674326966900E06942208
chr222697002926970079E06945494
chr222697036826970750E06945833
chr222687644426876585E070-47950
chr222687709526877322E070-47213
chr222688081326881400E070-43135
chr222690676526906805E070-17730
chr222690696326907155E070-17380
chr222690970426909789E070-14746
chr222695088826951342E07026353
chr222695147526951713E07026940
chr222695177426951953E07027239
chr222687644426876585E071-47950
chr222687709526877322E071-47213
chr222687739926877504E071-47031
chr222687765926878175E071-46360
chr222687817726878486E071-46049
chr222688081326881400E071-43135
chr222688161126881674E071-42861
chr222688176526881892E071-42643
chr222690676526906805E071-17730
chr222690696326907155E071-17380
chr222692363626924410E071-125
chr222695422926954410E07129694
chr222695447826954591E07129943
chr222695463426954910E07130099
chr222695785426957995E07133319
chr222695800826958648E07133473
chr222696390626964849E07139371
chr222696521126965361E07140676
chr222687644426876585E072-47950
chr222687709526877322E072-47213
chr222687739926877504E072-47031
chr222687765926878175E072-46360
chr222688081326881400E072-43135
chr222688161126881674E072-42861
chr222688176526881892E072-42643
chr222690676526906805E072-17730
chr222690696326907155E072-17380
chr222690983826910308E072-14227
chr222694216826942273E07217633
chr222694240826942627E07217873
chr222694264626942706E07218111
chr222694293626942990E07218401
chr222695147526951713E07226940
chr222695177426951953E07227239
chr222695279126953283E07228256
chr222695422926954410E07229694
chr222695447826954591E07229943
chr222695463426954910E07230099
chr222695800826958648E07233473
chr222696390626964849E07239371
chr222696612026966404E07241585
chr222696643126966683E07241896
chr222696674326966900E07242208
chr222696700226967074E07242467
chr222696714426967329E07242609
chr222687644426876585E073-47950
chr222687709526877322E073-47213
chr222687739926877504E073-47031
chr222687765926878175E073-46360
chr222687817726878486E073-46049
chr222688081326881400E073-43135
chr222688161126881674E073-42861
chr222688176526881892E073-42643
chr222688191726882087E073-42448
chr222689851326899651E073-24884
chr222692336226923520E073-1015
chr222692363626924410E073-125
chr222694264626942706E07318111
chr222694614326947058E07321608
chr222695147526951713E07326940
chr222695177426951953E07327239
chr222695279126953283E07328256
chr222695422926954410E07329694
chr222695447826954591E07329943
chr222695463426954910E07330099
chr222695599726956352E07331462
chr222695785426957995E07333319
chr222695800826958648E07333473
chr222695891526958968E07334380
chr222695898826959304E07334453
chr222696348526963535E07338950
chr222696390626964849E07339371
chr222696612026966404E07341585
chr222696643126966683E07341896
chr222696674326966900E07342208
chr222696862426968674E07344089
chr222696867826968728E07344143
chr222687644426876585E074-47950
chr222687709526877322E074-47213
chr222687739926877504E074-47031
chr222687765926878175E074-46360
chr222687817726878486E074-46049
chr222688081326881400E074-43135
chr222688521126885265E074-39270
chr222688539426885808E074-38727
chr222690970426909789E074-14746
chr222695007826950180E07425543
chr222695018626950428E07425651
chr222695047126950599E07425936
chr222695071626950766E07426181
chr222695088826951342E07426353
chr222695147526951713E07426940
chr222695177426951953E07427239
chr222687644426876585E081-47950
chr222687709526877322E081-47213
chr222687765926878175E081-46360
chr222687817726878486E081-46049
chr222690983826910308E081-14227
chr222691038526910456E081-14079
chr222691078126910831E081-13704
chr222691084726910927E081-13608
chr222692336226923520E081-1015
chr222692363626924410E081-125
chr222696612026966404E08141585
chr222696643126966683E08141896
chr222696674326966900E08142208
chr222687644426876585E082-47950
chr222687709526877322E082-47213
chr222687739926877504E082-47031
chr222688161126881674E082-42861
chr222688176526881892E082-42643
chr222688191726882087E082-42448
chr222690970426909789E082-14746










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222687896026880719E067-43816
chr222690795926908938E067-15597
chr222687896026880719E068-43816
chr222690795926908938E068-15597
chr222687896026880719E069-43816
chr222690795926908938E069-15597
chr222687896026880719E070-43816
chr222690795926908938E070-15597
chr222687896026880719E071-43816
chr222690795926908938E071-15597
chr222687896026880719E072-43816
chr222690795926908938E072-15597
chr222687896026880719E073-43816
chr222690795926908938E073-15597
chr222687896026880719E074-43816
chr222690795926908938E074-15597
chr222687896026880719E081-43816
chr222690795926908938E081-15597
chr222687896026880719E082-43816
chr222690795926908938E082-15597