rs2071597

Homo sapiens
A>G
POP1 : Intron Variant
RIDA : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0300 (8970/29858,GnomAD)
G=0267 (7779/29118,TOPMED)
G=0277 (1385/5008,1000G)
G=0362 (1397/3854,ALSPAC)
G=0378 (1401/3708,TWINSUK)
chr8:98117421 (GRCh38.p7) (8q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
128 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.98117421A>G
GRCh37.p13 chr 8NC_000008.10:g.99129649A>G

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/AGenic Upstream Transcript Variant
POP1 transcript variant X1XM_011516801.2:c.N/AIntron Variant

Gene: RIDA, reactive intermediate imine deaminase A homolog(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
RIDA transcriptNM_005836.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.873G=0.127
1000GenomesAmericanSub694A=0.660G=0.340
1000GenomesEast AsianSub1008A=0.728G=0.272
1000GenomesEuropeSub1006A=0.650G=0.350
1000GenomesGlobalStudy-wide5008A=0.723G=0.277
1000GenomesSouth AsianSub978A=0.630G=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.638G=0.362
The Genome Aggregation DatabaseAfricanSub8694A=0.839G=0.161
The Genome Aggregation DatabaseAmericanSub838A=0.620G=0.380
The Genome Aggregation DatabaseEast AsianSub1608A=0.777G=0.223
The Genome Aggregation DatabaseEuropeSub18416A=0.632G=0.367
The Genome Aggregation DatabaseGlobalStudy-wide29858A=0.699G=0.300
The Genome Aggregation DatabaseOtherSub302A=0.570G=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.732G=0.267
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.622G=0.378
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
rs20715970.00061alcohol dependence20201924

eQTL of rs2071597 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 rs2071597 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 )
chr89913188299131954E0672233
chr89913210499132165E0672455
chr89913221099132270E0672561
chr89913230299132352E0672653
chr89914452599144575E06714876
chr89916657999166629E06736930
chr89916672899166778E06737079
chr89916680399166905E06737154
chr89916940799169457E06739758
chr89916955299169653E06739903
chr89916980099169937E06740151
chr89916998699170523E06740337
chr89917148999171598E06741840
chr89917184399171897E06742194
chr89917194499172027E06742295
chr89917209399172506E06742444
chr89917254899172672E06742899
chr89917650099177702E06746851
chr89917774899177879E06748099
chr89914480099144936E06815151
chr89914498899145032E06815339
chr89916657999166629E06836930
chr89916998699170523E06840337
chr89917068099170832E06841031
chr89917096599171018E06841316
chr89917105799171128E06841408
chr89917148999171598E06841840
chr89917184399171897E06842194
chr89917194499172027E06842295
chr89917590599176375E06846256
chr89917650099177702E06846851
chr89917774899177879E06848099
chr89913084299130892E0691193
chr89913142199131483E0691772
chr89913159499131663E0691945
chr89913188299131954E0692233
chr89916563699165755E06935987
chr89916657999166629E06936930
chr89916672899166778E06937079
chr89916680399166905E06937154
chr89916998699170523E06940337
chr89917068099170832E06941031
chr89917096599171018E06941316
chr89917105799171128E06941408
chr89917148999171598E06941840
chr89917184399171897E06942194
chr89917194499172027E06942295
chr89917209399172506E06942444
chr89917254899172672E06942899
chr89917650099177702E06946851
chr89917774899177879E06948099
chr89913106899131120E0701419
chr89914372099143816E07014071
chr89914390299143982E07014253
chr89914408699144180E07014437
chr89914452599144575E07014876
chr89914480099144936E07015151
chr89909767499098212E071-31437
chr89913084299130892E0711193
chr89914452599144575E07114876
chr89916657999166629E07136930
chr89916672899166778E07137079
chr89916680399166905E07137154
chr89916980099169937E07140151
chr89917068099170832E07141031
chr89917096599171018E07141316
chr89917105799171128E07141408
chr89917148999171598E07141840
chr89917184399171897E07142194
chr89917194499172027E07142295
chr89917209399172506E07142444
chr89917650099177702E07146851
chr89917774899177879E07148099
chr89913084299130892E0721193
chr89913106899131120E0721419
chr89914480099144936E07215151
chr89916435899164525E07234709
chr89916454399165025E07234894
chr89916512199165171E07235472
chr89916657999166629E07236930
chr89916672899166778E07237079
chr89916680399166905E07237154
chr89916725899167392E07237609
chr89916980099169937E07240151
chr89916998699170523E07240337
chr89917068099170832E07241031
chr89917096599171018E07241316
chr89917105799171128E07241408
chr89917148999171598E07241840
chr89917184399171897E07242194
chr89917194499172027E07242295
chr89917209399172506E07242444
chr89917254899172672E07242899
chr89917650099177702E07246851
chr89917774899177879E07248099
chr89914480099144936E07315151
chr89916657999166629E07336930
chr89916672899166778E07337079
chr89916680399166905E07337154
chr89916725899167392E07337609
chr89916980099169937E07340151
chr89916998699170523E07340337
chr89917148999171598E07341840
chr89917184399171897E07342194
chr89917194499172027E07342295
chr89917209399172506E07342444
chr89917254899172672E07342899
chr89917650099177702E07346851
chr89917774899177879E07348099
chr89913084299130892E0741193
chr89914480099144936E07415151
chr89916603099166097E07436381
chr89916657999166629E07436930
chr89916672899166778E07437079
chr89916680399166905E07437154
chr89916980099169937E07440151
chr89917068099170832E07441031
chr89917096599171018E07441316
chr89917105799171128E07441408
chr89917148999171598E07441840
chr89917184399171897E07442194
chr89917194499172027E07442295
chr89917209399172506E07442444
chr89917590599176375E07446256
chr89917650099177702E07446851
chr89917774899177879E07448099
chr89913084299130892E0811193
chr89913106899131120E0821419










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr89912850099130594E0670
chr89912850099130594E0680
chr89912850099130594E0690
chr89912850099130594E0700
chr89912850099130594E0710
chr89912850099130594E0720
chr89912850099130594E0730
chr89912850099130594E0740
chr89912850099130594E0810
chr89912850099130594E0820