rs7226622

Homo sapiens
C>T
ZNF521 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0191 (5714/29888,GnomAD)
T=0233 (6795/29118,TOPMED)
T=0234 (1170/5008,1000G)
T=0108 (415/3854,ALSPAC)
T=0107 (398/3708,TWINSUK)
chr18:25211594 (GRCh38.p7) (18q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.25211594C>T
GRCh37.p13 chr 18NC_000018.9:g.22791558C>T

Gene: ZNF521, zinc finger protein 521(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF521 transcript variant 2NM_001308225.1:c.N/AIntron Variant
ZNF521 transcript variant 1NM_015461.2:c.N/AIntron Variant
ZNF521 transcript variant X1XM_011525909.2:c.N/AIntron Variant
ZNF521 transcript variant X5XM_011525911.1:c.N/AIntron Variant
ZNF521 transcript variant X3XM_017025697.1:c.N/AIntron Variant
ZNF521 transcript variant X4XM_017025698.1:c.N/AIntron Variant
ZNF521 transcript variant X2XM_011525910.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.614T=0.386
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.711T=0.289
1000GenomesEuropeSub1006C=0.893T=0.107
1000GenomesGlobalStudy-wide5008C=0.766T=0.234
1000GenomesSouth AsianSub978C=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.892T=0.108
The Genome Aggregation DatabaseAfricanSub8700C=0.660T=0.340
The Genome Aggregation DatabaseAmericanSub834C=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1610C=0.703T=0.297
The Genome Aggregation DatabaseEuropeSub18442C=0.887T=0.112
The Genome Aggregation DatabaseGlobalStudy-wide29888C=0.808T=0.191
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.766T=0.233
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.893T=0.107
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
rs72266220.000674alcohol dependence21314694

eQTL of rs7226622 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 rs7226622 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 )
chr182274373822744755E067-46803
chr182280999122810212E06718433
chr182274373822744755E068-46803
chr182275684422756976E068-34582
chr182275775522757845E068-33713
chr182280887822809500E06817320
chr182281907622820673E06827518
chr182274373822744755E069-46803
chr182280887822809500E06917320
chr182280954722809626E06917989
chr182280973322809783E06918175
chr182280989322809976E06918335
chr182280999122810212E06918433
chr182281031522810512E06918757
chr182281907622820673E06927518
chr182275101222752129E070-39429
chr182275594422756107E070-35451
chr182275614022756362E070-35196
chr182275660022756711E070-34847
chr182275684422756976E070-34582
chr182280887822809500E07017320
chr182280989322809976E07018335
chr182280999122810212E07018433
chr182281031522810512E07018757
chr182281057222811626E07019014
chr182276690122768172E071-23386
chr182280887822809500E07117320
chr182280954722809626E07117989
chr182280973322809783E07118175
chr182280989322809976E07118335
chr182280999122810212E07118433
chr182281907622820673E07127518
chr182274373822744755E072-46803
chr182280887822809500E07217320
chr182280999122810212E07218433
chr182281907622820673E07227518
chr182282084122820891E07229283
chr182282098922821091E07229431
chr182282126822821400E07229710
chr182280989322809976E07318335
chr182280999122810212E07318433
chr182281031522810512E07318757
chr182274373822744755E074-46803
chr182275775522757845E074-33713
chr182275819822758348E074-33210
chr182276826722768326E074-23232
chr182277510122775224E074-16334
chr182277524422775416E074-16142
chr182280399622804106E07412438
chr182280413322804203E07412575
chr182280887822809500E07417320
chr182280954722809626E07417989
chr182280973322809783E07418175
chr182280989322809976E07418335
chr182280999122810212E07418433
chr182281031522810512E07418757
chr182281907622820673E07427518
chr182274758922747772E081-43786
chr182274785722748612E081-42946
chr182275660022756711E081-34847
chr182275684422756976E081-34582
chr182280321122803525E08111653
chr182280954722809626E08117989
chr182280973322809783E08118175
chr182280989322809976E08118335
chr182280999122810212E08118433
chr182274785722748612E082-42946
chr182275614022756362E082-35196
chr182275660022756711E082-34847
chr182280887822809500E08217320
chr182281057222811626E08219014
chr182281465722814750E08223099
chr182281486822814938E08223310
chr182281498622815304E08223428










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr182274478522746026E068-45532
chr182274478522746026E069-45532
chr182274478522746026E071-45532
chr182274478522746026E072-45532
chr182274478522746026E073-45532