rs134157

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0435 (13002/29872,GnomAD)
C==0371 (10820/29116,TOPMED)
C==0373 (1868/5008,1000G)
C==0494 (1903/3854,ALSPAC)
T=0465 (1726/3708,TWINSUK)
chr22:26520756 (GRCh38.p7) (22q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
190 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.26520756C>T
GRCh37.p13 chr 22NC_000022.10:g.26916722C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.218T=0.782
1000GenomesAmericanSub694C=0.340T=0.660
1000GenomesEast AsianSub1008C=0.372T=0.628
1000GenomesEuropeSub1006C=0.539T=0.461
1000GenomesGlobalStudy-wide5008C=0.373T=0.627
1000GenomesSouth AsianSub978C=0.440T=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.494T=0.506
The Genome Aggregation DatabaseAfricanSub8684C=0.242T=0.758
The Genome Aggregation DatabaseAmericanSub836C=0.370T=0.630
The Genome Aggregation DatabaseEast AsianSub1610C=0.401T=0.599
The Genome Aggregation DatabaseEuropeSub18442C=0.531T=0.468
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.435T=0.564
The Genome Aggregation DatabaseOtherSub300C=0.490T=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.371T=0.628
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.535T=0.465
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
rs1341570.000246alcohol dependence24277619

eQTL of rs134157 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T2.8496e-21-4280Cerebellum
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T7.5720e-25-4280Frontal_Cortex_BA9
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T1.7311e-14-4280Hypothalamus
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T0.0000e+0-4280Cortex
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T7.7008e-24-4280Cerebellar_Hemisphere
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T5.0000e-27-4280Caudate_basal_ganglia
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T6.5303e-10-4280Brain_Spinal_cord_cervical
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T7.9363e-19-4280Hippocampus
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T2.5953e-11-4280Substantia_nigra
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T5.5601e-15-4280Putamen_basal_ganglia
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T1.3757e-23-4280Anterior_cingulate_cortex
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T9.9841e-24-4280Nucleus_accumbens_basal_ganglia
Chr22:26916722CTA-445C9.15ENSG00000260065.1C>T4.8124e-11-4280Amygdala

meQTL of rs134157 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 )
chr222687644426876585E067-40137
chr222687709526877322E067-39400
chr222687739926877504E067-39218
chr222687765926878175E067-38547
chr222687817726878486E067-38236
chr222688161126881674E067-35048
chr222688176526881892E067-34830
chr222688191726882087E067-34635
chr222689851326899651E067-17071
chr222690676526906805E067-9917
chr222690696326907155E067-9567
chr222690970426909789E067-6933
chr222690983826910308E067-6414
chr222691038526910456E067-6266
chr222691168226912478E067-4244
chr222694240826942627E06725686
chr222694264626942706E06725924
chr222694293626942990E06726214
chr222694307626943169E06726354
chr222695279126953283E06736069
chr222695350926953626E06736787
chr222695463426954910E06737912
chr222695500526955081E06738283
chr222695785426957995E06741132
chr222695800826958648E06741286
chr222696390626964849E06747184
chr222696612026966404E06749398
chr222696643126966683E06749709
chr222687644426876585E068-40137
chr222687709526877322E068-39400
chr222687739926877504E068-39218
chr222687765926878175E068-38547
chr222687817726878486E068-38236
chr222688081326881400E068-35322
chr222689851326899651E068-17071
chr222689970426900317E068-16405
chr222690059026900635E068-16087
chr222694189726942024E06825175
chr222694216826942273E06825446
chr222694240826942627E06825686
chr222694264626942706E06825924
chr222694293626942990E06826214
chr222694614326947058E06829421
chr222694721926947588E06830497
chr222695007826950180E06833356
chr222695018626950428E06833464
chr222695047126950599E06833749
chr222695071626950766E06833994
chr222695088826951342E06834166
chr222695785426957995E06841132
chr222696390626964849E06847184
chr222696643126966683E06849709
chr222687644426876585E069-40137
chr222687709526877322E069-39400
chr222687739926877504E069-39218
chr222687765926878175E069-38547
chr222687817726878486E069-38236
chr222688081326881400E069-35322
chr222688161126881674E069-35048
chr222688176526881892E069-34830
chr222688191726882087E069-34635
chr222689851326899651E069-17071
chr222689970426900317E069-16405
chr222690970426909789E069-6933
chr222690983826910308E069-6414
chr222694240826942627E06925686
chr222694264626942706E06925924
chr222694614326947058E06929421
chr222694809226948153E06931370
chr222695088826951342E06934166
chr222695147526951713E06934753
chr222695177426951953E06935052
chr222695279126953283E06936069
chr222696643126966683E06949709
chr222687644426876585E070-40137
chr222687709526877322E070-39400
chr222688081326881400E070-35322
chr222690676526906805E070-9917
chr222690696326907155E070-9567
chr222690970426909789E070-6933
chr222695088826951342E07034166
chr222695147526951713E07034753
chr222695177426951953E07035052
chr222687644426876585E071-40137
chr222687709526877322E071-39400
chr222687739926877504E071-39218
chr222687765926878175E071-38547
chr222687817726878486E071-38236
chr222688081326881400E071-35322
chr222688161126881674E071-35048
chr222688176526881892E071-34830
chr222690676526906805E071-9917
chr222690696326907155E071-9567
chr222692363626924410E0716914
chr222695422926954410E07137507
chr222695447826954591E07137756
chr222695463426954910E07137912
chr222695785426957995E07141132
chr222695800826958648E07141286
chr222696390626964849E07147184
chr222696521126965361E07148489
chr222687644426876585E072-40137
chr222687709526877322E072-39400
chr222687739926877504E072-39218
chr222687765926878175E072-38547
chr222688081326881400E072-35322
chr222688161126881674E072-35048
chr222688176526881892E072-34830
chr222690676526906805E072-9917
chr222690696326907155E072-9567
chr222690983826910308E072-6414
chr222694216826942273E07225446
chr222694240826942627E07225686
chr222694264626942706E07225924
chr222694293626942990E07226214
chr222695147526951713E07234753
chr222695177426951953E07235052
chr222695279126953283E07236069
chr222695422926954410E07237507
chr222695447826954591E07237756
chr222695463426954910E07237912
chr222695800826958648E07241286
chr222696390626964849E07247184
chr222696612026966404E07249398
chr222696643126966683E07249709
chr222687272026873597E073-43125
chr222687644426876585E073-40137
chr222687709526877322E073-39400
chr222687739926877504E073-39218
chr222687765926878175E073-38547
chr222687817726878486E073-38236
chr222688081326881400E073-35322
chr222688161126881674E073-35048
chr222688176526881892E073-34830
chr222688191726882087E073-34635
chr222689851326899651E073-17071
chr222692336226923520E0736640
chr222692363626924410E0736914
chr222694264626942706E07325924
chr222694614326947058E07329421
chr222695147526951713E07334753
chr222695177426951953E07335052
chr222695279126953283E07336069
chr222695422926954410E07337507
chr222695447826954591E07337756
chr222695463426954910E07337912
chr222695599726956352E07339275
chr222695785426957995E07341132
chr222695800826958648E07341286
chr222695891526958968E07342193
chr222695898826959304E07342266
chr222696348526963535E07346763
chr222696390626964849E07347184
chr222696612026966404E07349398
chr222696643126966683E07349709
chr222687644426876585E074-40137
chr222687709526877322E074-39400
chr222687739926877504E074-39218
chr222687765926878175E074-38547
chr222687817726878486E074-38236
chr222688081326881400E074-35322
chr222688521126885265E074-31457
chr222688539426885808E074-30914
chr222690970426909789E074-6933
chr222695007826950180E07433356
chr222695018626950428E07433464
chr222695047126950599E07433749
chr222695071626950766E07433994
chr222695088826951342E07434166
chr222695147526951713E07434753
chr222695177426951953E07435052
chr222687644426876585E081-40137
chr222687709526877322E081-39400
chr222687765926878175E081-38547
chr222687817726878486E081-38236
chr222690983826910308E081-6414
chr222691038526910456E081-6266
chr222691078126910831E081-5891
chr222691084726910927E081-5795
chr222692336226923520E0816640
chr222692363626924410E0816914
chr222696612026966404E08149398
chr222696643126966683E08149709
chr222687644426876585E082-40137
chr222687709526877322E082-39400
chr222687739926877504E082-39218
chr222688161126881674E082-35048
chr222688176526881892E082-34830
chr222688191726882087E082-34635
chr222690970426909789E082-6933










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222687896026880719E067-36003
chr222690795926908938E067-7784
chr222687896026880719E068-36003
chr222690795926908938E068-7784
chr222687896026880719E069-36003
chr222690795926908938E069-7784
chr222687896026880719E070-36003
chr222690795926908938E070-7784
chr222687896026880719E071-36003
chr222690795926908938E071-7784
chr222687896026880719E072-36003
chr222690795926908938E072-7784
chr222687896026880719E073-36003
chr222690795926908938E073-7784
chr222687896026880719E074-36003
chr222690795926908938E074-7784
chr222687896026880719E081-36003
chr222690795926908938E081-7784
chr222687896026880719E082-36003
chr222690795926908938E082-7784