rs4734384

Homo sapiens
A>C
POP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0295 (8788/29766,GnomAD)
C=0258 (7514/29118,TOPMED)
C=0265 (1327/5008,1000G)
C=0364 (1402/3854,ALSPAC)
C=0379 (1407/3708,TWINSUK)
chr8:98121450 (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.98121450A>C
GRCh37.p13 chr 8NC_000008.10:g.99133678A>C

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
1000GenomesAfricanSub1322A=0.884C=0.116
1000GenomesAmericanSub694A=0.690C=0.310
1000GenomesEast AsianSub1008A=0.746C=0.254
1000GenomesEuropeSub1006A=0.649C=0.351
1000GenomesGlobalStudy-wide5008A=0.735C=0.265
1000GenomesSouth AsianSub978A=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.636C=0.364
The Genome Aggregation DatabaseAfricanSub8668A=0.853C=0.147
The Genome Aggregation DatabaseAmericanSub830A=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1610A=0.788C=0.212
The Genome Aggregation DatabaseEuropeSub18356A=0.631C=0.368
The Genome Aggregation DatabaseGlobalStudy-wide29766A=0.704C=0.295
The Genome Aggregation DatabaseOtherSub302A=0.560C=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.741C=0.258
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.621C=0.379
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
rs47343840.000215alcohol dependence20201924

eQTL of rs4734384 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 rs4734384 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 )
chr89913188299131954E067-1724
chr89913210499132165E067-1513
chr89913221099132270E067-1408
chr89913230299132352E067-1326
chr89914452599144575E06710847
chr89916657999166629E06732901
chr89916672899166778E06733050
chr89916680399166905E06733125
chr89916940799169457E06735729
chr89916955299169653E06735874
chr89916980099169937E06736122
chr89916998699170523E06736308
chr89917148999171598E06737811
chr89917184399171897E06738165
chr89917194499172027E06738266
chr89917209399172506E06738415
chr89917254899172672E06738870
chr89917650099177702E06742822
chr89917774899177879E06744070
chr89918280399183140E06749125
chr89918318599183261E06749507
chr89918332999183424E06749651
chr89914480099144936E06811122
chr89914498899145032E06811310
chr89916657999166629E06832901
chr89916998699170523E06836308
chr89917068099170832E06837002
chr89917096599171018E06837287
chr89917105799171128E06837379
chr89917148999171598E06837811
chr89917184399171897E06838165
chr89917194499172027E06838266
chr89917590599176375E06842227
chr89917650099177702E06842822
chr89917774899177879E06844070
chr89913084299130892E069-2786
chr89913142199131483E069-2195
chr89913159499131663E069-2015
chr89913188299131954E069-1724
chr89916563699165755E06931958
chr89916657999166629E06932901
chr89916672899166778E06933050
chr89916680399166905E06933125
chr89916998699170523E06936308
chr89917068099170832E06937002
chr89917096599171018E06937287
chr89917105799171128E06937379
chr89917148999171598E06937811
chr89917184399171897E06938165
chr89917194499172027E06938266
chr89917209399172506E06938415
chr89917254899172672E06938870
chr89917650099177702E06942822
chr89917774899177879E06944070
chr89918193299182004E06948254
chr89913106899131120E070-2558
chr89914372099143816E07010042
chr89914390299143982E07010224
chr89914408699144180E07010408
chr89914452599144575E07010847
chr89914480099144936E07011122
chr89918280399183140E07049125
chr89909767499098212E071-35466
chr89913084299130892E071-2786
chr89914452599144575E07110847
chr89916657999166629E07132901
chr89916672899166778E07133050
chr89916680399166905E07133125
chr89916980099169937E07136122
chr89917068099170832E07137002
chr89917096599171018E07137287
chr89917105799171128E07137379
chr89917148999171598E07137811
chr89917184399171897E07138165
chr89917194499172027E07138266
chr89917209399172506E07138415
chr89917650099177702E07142822
chr89917774899177879E07144070
chr89918280399183140E07149125
chr89913084299130892E072-2786
chr89913106899131120E072-2558
chr89914480099144936E07211122
chr89916435899164525E07230680
chr89916454399165025E07230865
chr89916512199165171E07231443
chr89916657999166629E07232901
chr89916672899166778E07233050
chr89916680399166905E07233125
chr89916725899167392E07233580
chr89916980099169937E07236122
chr89916998699170523E07236308
chr89917068099170832E07237002
chr89917096599171018E07237287
chr89917105799171128E07237379
chr89917148999171598E07237811
chr89917184399171897E07238165
chr89917194499172027E07238266
chr89917209399172506E07238415
chr89917254899172672E07238870
chr89917650099177702E07242822
chr89917774899177879E07244070
chr89914480099144936E07311122
chr89916657999166629E07332901
chr89916672899166778E07333050
chr89916680399166905E07333125
chr89916725899167392E07333580
chr89916980099169937E07336122
chr89916998699170523E07336308
chr89917148999171598E07337811
chr89917184399171897E07338165
chr89917194499172027E07338266
chr89917209399172506E07338415
chr89917254899172672E07338870
chr89917650099177702E07342822
chr89917774899177879E07344070
chr89918280399183140E07349125
chr89918318599183261E07349507
chr89913084299130892E074-2786
chr89914480099144936E07411122
chr89916603099166097E07432352
chr89916657999166629E07432901
chr89916672899166778E07433050
chr89916680399166905E07433125
chr89916980099169937E07436122
chr89917068099170832E07437002
chr89917096599171018E07437287
chr89917105799171128E07437379
chr89917148999171598E07437811
chr89917184399171897E07438165
chr89917194499172027E07438266
chr89917209399172506E07438415
chr89917590599176375E07442227
chr89917650099177702E07442822
chr89917774899177879E07444070
chr89918193299182004E07448254
chr89913084299130892E081-2786
chr89918280399183140E08149125
chr89918318599183261E08149507
chr89913106899131120E082-2558
chr89918280399183140E08249125
chr89918318599183261E08249507










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr89912850099130594E067-3084
chr89912850099130594E068-3084
chr89912850099130594E069-3084
chr89912850099130594E070-3084
chr89912850099130594E071-3084
chr89912850099130594E072-3084
chr89912850099130594E073-3084
chr89912850099130594E074-3084
chr89912850099130594E081-3084
chr89912850099130594E082-3084