rs4735529

Homo sapiens
C>T
POP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0491 (14684/29894,GnomAD)
T=0481 (14013/29118,TOPMED)
T=0446 (2234/5008,1000G)
C==0500 (1927/3854,ALSPAC)
T=0500 (1927/3854,ALSPAC)
C==0496 (1838/3708,TWINSUK)
chr8:98127382 (GRCh38.p7) (8q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
141 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.98127382C>T
GRCh37.p13 chr 8NC_000008.10:g.99139610C>T

Gene: POP1, POP1 homolog, ribonuclease P/MRP subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
POP1 transcript variant 1NM_001145860.1:c.N/AIntron Variant
POP1 transcript variant 2NM_001145861.1:c.N/AIntron Variant
POP1 transcript variant 3NM_015029.2:c.N/AIntron Variant
POP1 transcript variant X1XM_011516801.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.550T=0.450
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.704T=0.296
1000GenomesEuropeSub1006C=0.468T=0.532
1000GenomesGlobalStudy-wide5008C=0.554T=0.446
1000GenomesSouth AsianSub978C=0.510T=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.500T=0.500
The Genome Aggregation DatabaseAfricanSub8698C=0.542T=0.458
The Genome Aggregation DatabaseAmericanSub838C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1614C=0.748T=0.252
The Genome Aggregation DatabaseEuropeSub18444C=0.473T=0.526
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.508T=0.491
The Genome Aggregation DatabaseOtherSub300C=0.420T=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.518T=0.481
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.496T=0.504
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47355290.000131alcohol dependence20201924

eQTL of rs4735529 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 rs4735529 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 )
chr89913188299131954E067-7656
chr89913210499132165E067-7445
chr89913221099132270E067-7340
chr89913230299132352E067-7258
chr89914452599144575E0674915
chr89916657999166629E06726969
chr89916672899166778E06727118
chr89916680399166905E06727193
chr89916940799169457E06729797
chr89916955299169653E06729942
chr89916980099169937E06730190
chr89916998699170523E06730376
chr89917148999171598E06731879
chr89917184399171897E06732233
chr89917194499172027E06732334
chr89917209399172506E06732483
chr89917254899172672E06732938
chr89917650099177702E06736890
chr89917774899177879E06738138
chr89918280399183140E06743193
chr89918318599183261E06743575
chr89918332999183424E06743719
chr89914480099144936E0685190
chr89914498899145032E0685378
chr89916657999166629E06826969
chr89916998699170523E06830376
chr89917068099170832E06831070
chr89917096599171018E06831355
chr89917105799171128E06831447
chr89917148999171598E06831879
chr89917184399171897E06832233
chr89917194499172027E06832334
chr89917590599176375E06836295
chr89917650099177702E06836890
chr89917774899177879E06838138
chr89913084299130892E069-8718
chr89913142199131483E069-8127
chr89913159499131663E069-7947
chr89913188299131954E069-7656
chr89916563699165755E06926026
chr89916657999166629E06926969
chr89916672899166778E06927118
chr89916680399166905E06927193
chr89916998699170523E06930376
chr89917068099170832E06931070
chr89917096599171018E06931355
chr89917105799171128E06931447
chr89917148999171598E06931879
chr89917184399171897E06932233
chr89917194499172027E06932334
chr89917209399172506E06932483
chr89917254899172672E06932938
chr89917650099177702E06936890
chr89917774899177879E06938138
chr89918193299182004E06942322
chr89913106899131120E070-8490
chr89914372099143816E0704110
chr89914390299143982E0704292
chr89914408699144180E0704476
chr89914452599144575E0704915
chr89914480099144936E0705190
chr89918280399183140E07043193
chr89909767499098212E071-41398
chr89913084299130892E071-8718
chr89914452599144575E0714915
chr89916657999166629E07126969
chr89916672899166778E07127118
chr89916680399166905E07127193
chr89916980099169937E07130190
chr89917068099170832E07131070
chr89917096599171018E07131355
chr89917105799171128E07131447
chr89917148999171598E07131879
chr89917184399171897E07132233
chr89917194499172027E07132334
chr89917209399172506E07132483
chr89917650099177702E07136890
chr89917774899177879E07138138
chr89918280399183140E07143193
chr89913084299130892E072-8718
chr89913106899131120E072-8490
chr89914480099144936E0725190
chr89916435899164525E07224748
chr89916454399165025E07224933
chr89916512199165171E07225511
chr89916657999166629E07226969
chr89916672899166778E07227118
chr89916680399166905E07227193
chr89916725899167392E07227648
chr89916980099169937E07230190
chr89916998699170523E07230376
chr89917068099170832E07231070
chr89917096599171018E07231355
chr89917105799171128E07231447
chr89917148999171598E07231879
chr89917184399171897E07232233
chr89917194499172027E07232334
chr89917209399172506E07232483
chr89917254899172672E07232938
chr89917650099177702E07236890
chr89917774899177879E07238138
chr89914480099144936E0735190
chr89916657999166629E07326969
chr89916672899166778E07327118
chr89916680399166905E07327193
chr89916725899167392E07327648
chr89916980099169937E07330190
chr89916998699170523E07330376
chr89917148999171598E07331879
chr89917184399171897E07332233
chr89917194499172027E07332334
chr89917209399172506E07332483
chr89917254899172672E07332938
chr89917650099177702E07336890
chr89917774899177879E07338138
chr89918280399183140E07343193
chr89918318599183261E07343575
chr89913084299130892E074-8718
chr89914480099144936E0745190
chr89916603099166097E07426420
chr89916657999166629E07426969
chr89916672899166778E07427118
chr89916680399166905E07427193
chr89916980099169937E07430190
chr89917068099170832E07431070
chr89917096599171018E07431355
chr89917105799171128E07431447
chr89917148999171598E07431879
chr89917184399171897E07432233
chr89917194499172027E07432334
chr89917209399172506E07432483
chr89917590599176375E07436295
chr89917650099177702E07436890
chr89917774899177879E07438138
chr89918193299182004E07442322
chr89913084299130892E081-8718
chr89918280399183140E08143193
chr89918318599183261E08143575
chr89913106899131120E082-8490
chr89918280399183140E08243193
chr89918318599183261E08243575










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr89912850099130594E067-9016
chr89912850099130594E068-9016
chr89912850099130594E069-9016
chr89912850099130594E070-9016
chr89912850099130594E071-9016
chr89912850099130594E072-9016
chr89912850099130594E073-9016
chr89912850099130594E074-9016
chr89912850099130594E081-9016
chr89912850099130594E082-9016