rs2283822

Homo sapiens
C>T
TPST2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0268 (8048/29940,GnomAD)
T=0293 (8553/29116,TOPMED)
T=0243 (1218/5008,1000G)
T=0305 (1176/3854,ALSPAC)
T=0285 (1056/3708,TWINSUK)
chr22:26528346 (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.26528346C>T
GRCh37.p13 chr 22NC_000022.10:g.26924312C>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=0.734T=0.266
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.775T=0.225
1000GenomesEuropeSub1006C=0.718T=0.282
1000GenomesGlobalStudy-wide5008C=0.757T=0.243
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.695T=0.305
The Genome Aggregation DatabaseAfricanSub8720C=0.724T=0.276
The Genome Aggregation DatabaseAmericanSub836C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1616C=0.773T=0.227
The Genome Aggregation DatabaseEuropeSub18466C=0.727T=0.272
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.731T=0.268
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.706T=0.293
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.715T=0.285
PMID Title Author Journal
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
rs22838220.000938alcohol dependence24277619

eQTL of rs2283822 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T2.8496e-213310Cerebellum
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T7.5720e-253310Frontal_Cortex_BA9
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T0.0000e+03310Cortex
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T7.7008e-243310Cerebellar_Hemisphere
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T5.0000e-273310Caudate_basal_ganglia
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T7.9363e-193310Hippocampus
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T1.3757e-233310Anterior_cingulate_cortex
Chr22:26924312CTA-445C9.15ENSG00000260065.1C>T9.9841e-243310Nucleus_accumbens_basal_ganglia

meQTL of rs2283822 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 )
chr222687644426876585E067-47727
chr222687709526877322E067-46990
chr222687739926877504E067-46808
chr222687765926878175E067-46137
chr222687817726878486E067-45826
chr222688161126881674E067-42638
chr222688176526881892E067-42420
chr222688191726882087E067-42225
chr222689851326899651E067-24661
chr222690676526906805E067-17507
chr222690696326907155E067-17157
chr222690970426909789E067-14523
chr222690983826910308E067-14004
chr222691038526910456E067-13856
chr222691168226912478E067-11834
chr222694240826942627E06718096
chr222694264626942706E06718334
chr222694293626942990E06718624
chr222694307626943169E06718764
chr222695279126953283E06728479
chr222695350926953626E06729197
chr222695463426954910E06730322
chr222695500526955081E06730693
chr222695785426957995E06733542
chr222695800826958648E06733696
chr222696390626964849E06739594
chr222696612026966404E06741808
chr222696643126966683E06742119
chr222696674326966900E06742431
chr222687644426876585E068-47727
chr222687709526877322E068-46990
chr222687739926877504E068-46808
chr222687765926878175E068-46137
chr222687817726878486E068-45826
chr222688081326881400E068-42912
chr222689851326899651E068-24661
chr222689970426900317E068-23995
chr222690059026900635E068-23677
chr222694189726942024E06817585
chr222694216826942273E06817856
chr222694240826942627E06818096
chr222694264626942706E06818334
chr222694293626942990E06818624
chr222694614326947058E06821831
chr222694721926947588E06822907
chr222695007826950180E06825766
chr222695018626950428E06825874
chr222695047126950599E06826159
chr222695071626950766E06826404
chr222695088826951342E06826576
chr222695785426957995E06833542
chr222696390626964849E06839594
chr222696643126966683E06842119
chr222696674326966900E06842431
chr222687644426876585E069-47727
chr222687709526877322E069-46990
chr222687739926877504E069-46808
chr222687765926878175E069-46137
chr222687817726878486E069-45826
chr222688081326881400E069-42912
chr222688161126881674E069-42638
chr222688176526881892E069-42420
chr222688191726882087E069-42225
chr222689851326899651E069-24661
chr222689970426900317E069-23995
chr222690970426909789E069-14523
chr222690983826910308E069-14004
chr222694240826942627E06918096
chr222694264626942706E06918334
chr222694614326947058E06921831
chr222694809226948153E06923780
chr222695088826951342E06926576
chr222695147526951713E06927163
chr222695177426951953E06927462
chr222695279126953283E06928479
chr222696643126966683E06942119
chr222696674326966900E06942431
chr222697002926970079E06945717
chr222697036826970750E06946056
chr222687644426876585E070-47727
chr222687709526877322E070-46990
chr222688081326881400E070-42912
chr222690676526906805E070-17507
chr222690696326907155E070-17157
chr222690970426909789E070-14523
chr222695088826951342E07026576
chr222695147526951713E07027163
chr222695177426951953E07027462
chr222687644426876585E071-47727
chr222687709526877322E071-46990
chr222687739926877504E071-46808
chr222687765926878175E071-46137
chr222687817726878486E071-45826
chr222688081326881400E071-42912
chr222688161126881674E071-42638
chr222688176526881892E071-42420
chr222690676526906805E071-17507
chr222690696326907155E071-17157
chr222692363626924410E0710
chr222695422926954410E07129917
chr222695447826954591E07130166
chr222695463426954910E07130322
chr222695785426957995E07133542
chr222695800826958648E07133696
chr222696390626964849E07139594
chr222696521126965361E07140899
chr222687644426876585E072-47727
chr222687709526877322E072-46990
chr222687739926877504E072-46808
chr222687765926878175E072-46137
chr222688081326881400E072-42912
chr222688161126881674E072-42638
chr222688176526881892E072-42420
chr222690676526906805E072-17507
chr222690696326907155E072-17157
chr222690983826910308E072-14004
chr222694216826942273E07217856
chr222694240826942627E07218096
chr222694264626942706E07218334
chr222694293626942990E07218624
chr222695147526951713E07227163
chr222695177426951953E07227462
chr222695279126953283E07228479
chr222695422926954410E07229917
chr222695447826954591E07230166
chr222695463426954910E07230322
chr222695800826958648E07233696
chr222696390626964849E07239594
chr222696612026966404E07241808
chr222696643126966683E07242119
chr222696674326966900E07242431
chr222696700226967074E07242690
chr222696714426967329E07242832
chr222687644426876585E073-47727
chr222687709526877322E073-46990
chr222687739926877504E073-46808
chr222687765926878175E073-46137
chr222687817726878486E073-45826
chr222688081326881400E073-42912
chr222688161126881674E073-42638
chr222688176526881892E073-42420
chr222688191726882087E073-42225
chr222689851326899651E073-24661
chr222692336226923520E073-792
chr222692363626924410E0730
chr222694264626942706E07318334
chr222694614326947058E07321831
chr222695147526951713E07327163
chr222695177426951953E07327462
chr222695279126953283E07328479
chr222695422926954410E07329917
chr222695447826954591E07330166
chr222695463426954910E07330322
chr222695599726956352E07331685
chr222695785426957995E07333542
chr222695800826958648E07333696
chr222695891526958968E07334603
chr222695898826959304E07334676
chr222696348526963535E07339173
chr222696390626964849E07339594
chr222696612026966404E07341808
chr222696643126966683E07342119
chr222696674326966900E07342431
chr222696862426968674E07344312
chr222696867826968728E07344366
chr222687644426876585E074-47727
chr222687709526877322E074-46990
chr222687739926877504E074-46808
chr222687765926878175E074-46137
chr222687817726878486E074-45826
chr222688081326881400E074-42912
chr222688521126885265E074-39047
chr222688539426885808E074-38504
chr222690970426909789E074-14523
chr222695007826950180E07425766
chr222695018626950428E07425874
chr222695047126950599E07426159
chr222695071626950766E07426404
chr222695088826951342E07426576
chr222695147526951713E07427163
chr222695177426951953E07427462
chr222687644426876585E081-47727
chr222687709526877322E081-46990
chr222687765926878175E081-46137
chr222687817726878486E081-45826
chr222690983826910308E081-14004
chr222691038526910456E081-13856
chr222691078126910831E081-13481
chr222691084726910927E081-13385
chr222692336226923520E081-792
chr222692363626924410E0810
chr222696612026966404E08141808
chr222696643126966683E08142119
chr222696674326966900E08142431
chr222687644426876585E082-47727
chr222687709526877322E082-46990
chr222687739926877504E082-46808
chr222688161126881674E082-42638
chr222688176526881892E082-42420
chr222688191726882087E082-42225
chr222690970426909789E082-14523










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222687896026880719E067-43593
chr222690795926908938E067-15374
chr222687896026880719E068-43593
chr222690795926908938E068-15374
chr222687896026880719E069-43593
chr222690795926908938E069-15374
chr222687896026880719E070-43593
chr222690795926908938E070-15374
chr222687896026880719E071-43593
chr222690795926908938E071-15374
chr222687896026880719E072-43593
chr222690795926908938E072-15374
chr222687896026880719E073-43593
chr222690795926908938E073-15374
chr222687896026880719E074-43593
chr222690795926908938E074-15374
chr222687896026880719E081-43593
chr222690795926908938E081-15374
chr222687896026880719E082-43593
chr222690795926908938E082-15374