rs11765220

Homo sapiens
C>T
PDE1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0468 (13997/29890,GnomAD)
C==0469 (13675/29118,TOPMED)
T=0488 (2445/5008,1000G)
C==0433 (1668/3854,ALSPAC)
C==0444 (1645/3708,TWINSUK)
chr7:32203748 (GRCh38.p7) (7p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
92 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.32203748C>T
GRCh37.p13 chr 7NC_000007.13:g.32243360C>T

Gene: PDE1C, phosphodiesterase 1C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDE1C transcript variant 3NM_001191058.3:c.N/AIntron Variant
PDE1C transcript variant 9NM_001322058.1:c.N/AIntron Variant
PDE1C transcript variant 10NM_001322059.1:c.N/AIntron Variant
PDE1C transcript variant 1NM_001191056.3:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 2NM_001191057.3:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 5NM_001191059.3:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 6NM_001322055.1:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 7NM_001322056.1:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 8NM_001322057.1:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant 4NM_005020.4:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant X1XM_017012264.1:c.N/AIntron Variant
PDE1C transcript variant X4XM_017012265.1:c.N/AIntron Variant
PDE1C transcript variant X5XM_017012266.1:c.N/AIntron Variant
PDE1C transcript variant X6XM_017012267.1:c.N/AGenic Upstream Transcript Variant
PDE1C transcript variant X2XR_001744802.1:n.N/AIntron Variant
PDE1C transcript variant X3XR_001744803.1:n.N/AIntron Variant
PDE1C transcript variant X7XR_001744804.1:n.N/AIntron Variant
PDE1C transcript variant X8XR_001744805.1:n.N/AIntron Variant
PDE1C transcript variant X9XR_001744806.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.533T=0.467
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.548T=0.452
1000GenomesEuropeSub1006C=0.422T=0.578
1000GenomesGlobalStudy-wide5008C=0.512T=0.488
1000GenomesSouth AsianSub978C=0.500T=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.433T=0.567
The Genome Aggregation DatabaseAfricanSub8680C=0.520T=0.480
The Genome Aggregation DatabaseAmericanSub838C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1604C=0.513T=0.487
The Genome Aggregation DatabaseEuropeSub18466C=0.435T=0.564
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.468T=0.531
The Genome Aggregation DatabaseOtherSub302C=0.360T=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.469T=0.530
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.444T=0.556
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs117652200.000383nicotine smoking19268276

eQTL of rs11765220 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 rs11765220 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 )
chr73219450832194706E067-48654
chr73219480232194888E067-48472
chr73219495432195004E067-48356
chr73219526232195381E067-47979
chr73219540932195679E067-47681
chr73220240432203576E067-39784
chr73225745132257534E06714091
chr73225772732257925E06714367
chr73225745132257534E06814091
chr73225772732257925E06814367
chr73228969932289797E06846339
chr73228989932289978E06846539
chr73219450832194706E069-48654
chr73219480232194888E069-48472
chr73219495432195004E069-48356
chr73219526232195381E069-47979
chr73219540932195679E069-47681
chr73219648132196531E069-46829
chr73225639832256448E07013038
chr73225656732256786E07013207
chr73225686732257358E07013507
chr73225745132257534E07014091
chr73225772732257925E07014367
chr73225800532258595E07014645
chr73225860832258658E07015248
chr73225870832258860E07015348
chr73226207932262173E07018719
chr73228989932289978E07046539
chr73229089932290993E07047539
chr73229101032291060E07047650
chr73229140932291459E07048049
chr73229252332292614E07049163
chr73229267332292723E07049313
chr73229276232293264E07049402
chr73219450832194706E071-48654
chr73219480232194888E071-48472
chr73219495432195004E071-48356
chr73219526232195381E071-47979
chr73219540932195679E071-47681
chr73220240432203576E071-39784
chr73220358132203902E071-39458
chr73229276232293264E07149402
chr73219450832194706E072-48654
chr73219480232194888E072-48472
chr73219495432195004E072-48356
chr73219526232195381E072-47979
chr73219540932195679E072-47681
chr73220240432203576E073-39784
chr73225745132257534E07314091
chr73225772732257925E07314367
chr73219450832194706E074-48654
chr73219480232194888E074-48472
chr73219495432195004E074-48356
chr73219526232195381E074-47979
chr73219540932195679E074-47681
chr73220240432203576E074-39784
chr73220358132203902E074-39458
chr73228989932289978E07446539
chr73219854232198628E081-44732
chr73219870832198818E081-44542
chr73219908832199261E081-44099
chr73220240432203576E081-39784
chr73220358132203902E081-39458
chr73220398032204537E081-38823
chr73222874132228926E081-14434
chr73222905632229331E081-14029
chr73225544832255564E08112088
chr73225595732256315E08112597
chr73225639832256448E08113038
chr73225656732256786E08113207
chr73225686732257358E08113507
chr73225745132257534E08114091
chr73225772732257925E08114367
chr73225800532258595E08114645
chr73225860832258658E08115248
chr73225870832258860E08115348
chr73225912432259270E08115764
chr73225932832259378E08115968
chr73229089932290993E08147539
chr73229101032291060E08147650
chr73225639832256448E08213038
chr73225656732256786E08213207
chr73225686732257358E08213507
chr73225745132257534E08214091
chr73225772732257925E08214367
chr73225800532258595E08214645
chr73225860832258658E08215248
chr73225870832258860E08215348
chr73225912432259270E08215764
chr73228989932289978E08246539
chr73229089932290993E08247539
chr73229101032291060E08247650










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73224385532244377E067495
chr73224385532244377E068495
chr73224385532244377E069495
chr73224385532244377E071495
chr73224385532244377E072495
chr73224385532244377E073495
chr73224385532244377E074495