rs1612684

Homo sapiens
G>T
PPP2R5C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0322 (9650/29954,GnomAD)
T=0380 (11069/29118,TOPMED)
T=0354 (1773/5008,1000G)
T=0172 (662/3854,ALSPAC)
T=0169 (628/3708,TWINSUK)
chr14:101909875 (GRCh38.p7) (14q32.31)
ND
GWASdb2
1   publication(s)
See rs on genome
137 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.101909875G>T
GRCh37.p13 chr 14NC_000014.8:g.102376212G>T

Gene: PPP2R5C, protein phosphatase 2 regulatory subunit B', gamma(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP2R5C transcript variant 5NM_001161725.1:c.N/AIntron Variant
PPP2R5C transcript variant 6NM_001161726.1:c.N/AIntron Variant
PPP2R5C transcript variant 1NM_002719.3:c.N/AIntron Variant
PPP2R5C transcript variant 2NM_178586.2:c.N/AIntron Variant
PPP2R5C transcript variant 3NM_178587.2:c.N/AIntron Variant
PPP2R5C transcript variant X1XM_005267819.1:c.N/AIntron Variant
PPP2R5C transcript variant X2XM_005267820.1:c.N/AIntron Variant
PPP2R5C transcript variant X2XM_005267822.3:c.N/AIntron Variant
PPP2R5C transcript variant X4XM_005267823.1:c.N/AIntron Variant
PPP2R5C transcript variant X3XM_005267824.1:c.N/AIntron Variant
PPP2R5C transcript variant X5XM_005267826.1:c.N/AIntron Variant
PPP2R5C transcript variant X7XM_005267827.1:c.N/AIntron Variant
PPP2R5C transcript variant X5XM_011536914.2:c.N/AIntron Variant
PPP2R5C transcript variant X9XM_011536915.2:c.N/AIntron Variant
PPP2R5C transcript variant X8XM_011536916.2:c.N/AIntron Variant
PPP2R5C transcript variant X4XM_011536918.1:c.N/AIntron Variant
PPP2R5C transcript variant X11XM_011536919.2:c.N/AIntron Variant
PPP2R5C transcript variant X8XM_011536920.1:c.N/AIntron Variant
PPP2R5C transcript variant X7XM_011536921.2:c.N/AIntron Variant
PPP2R5C transcript variant X13XM_017021422.1:c.N/AIntron Variant
PPP2R5C transcript variant X14XM_017021423.1:c.N/AIntron Variant
PPP2R5C transcript variant X17XM_017021424.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.294T=0.706
1000GenomesAmericanSub694G=0.810T=0.190
1000GenomesEast AsianSub1008G=0.694T=0.306
1000GenomesEuropeSub1006G=0.835T=0.165
1000GenomesGlobalStudy-wide5008G=0.646T=0.354
1000GenomesSouth AsianSub978G=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.828T=0.172
The Genome Aggregation DatabaseAfricanSub8722G=0.369T=0.631
The Genome Aggregation DatabaseAmericanSub836G=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1612G=0.688T=0.312
The Genome Aggregation DatabaseEuropeSub18482G=0.816T=0.184
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.677T=0.322
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.619T=0.380
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.831T=0.169
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
rs16126840.000752nicotine smoking19268276

eQTL of rs1612684 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr14:102376212RP11-1017G21.5ENSG00000271780.1G>T4.6391e-5-38472Hippocampus

meQTL of rs1612684 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 )
chr14102336608102336879E067-39333
chr14102341508102341707E067-34505
chr14102341757102343283E067-32929
chr14102344173102345721E067-30491
chr14102345737102345791E067-30421
chr14102345813102345896E067-30316
chr14102346025102346346E067-29866
chr14102375193102375273E067-939
chr14102375369102375438E067-774
chr14102375525102375579E067-633
chr14102382926102383038E0676714
chr14102383067102383117E0676855
chr14102383182102383569E0676970
chr14102383587102383755E0677375
chr14102383814102383955E0677602
chr14102383973102384347E0677761
chr14102416143102416202E06739931
chr14102416262102416344E06740050
chr14102416464102416774E06740252
chr14102416807102417037E06740595
chr14102417088102417170E06740876
chr14102417265102417519E06741053
chr14102336608102336879E068-39333
chr14102336994102337223E068-38989
chr14102341508102341707E068-34505
chr14102341757102343283E068-32929
chr14102367082102367140E068-9072
chr14102367723102367773E068-8439
chr14102368315102368393E068-7819
chr14102368752102368870E068-7342
chr14102368942102368992E068-7220
chr14102369214102369307E068-6905
chr14102369444102369604E068-6608
chr14102369654102369925E068-6287
chr14102383587102383755E0687375
chr14102383814102383955E0687602
chr14102383973102384347E0687761
chr14102336608102336879E069-39333
chr14102336994102337223E069-38989
chr14102341508102341707E069-34505
chr14102341757102343283E069-32929
chr14102343466102343997E069-32215
chr14102344055102344149E069-32063
chr14102344173102345721E069-30491
chr14102345737102345791E069-30421
chr14102345813102345896E069-30316
chr14102365198102365248E069-10964
chr14102368315102368393E069-7819
chr14102368752102368870E069-7342
chr14102368942102368992E069-7220
chr14102375193102375273E069-939
chr14102375369102375438E069-774
chr14102375525102375579E069-633
chr14102375669102375757E069-455
chr14102382926102383038E0696714
chr14102383067102383117E0696855
chr14102383182102383569E0696970
chr14102383587102383755E0697375
chr14102383814102383955E0697602
chr14102383973102384347E0697761
chr14102384375102384690E0698163
chr14102416143102416202E06939931
chr14102416262102416344E06940050
chr14102416464102416774E06940252
chr14102416807102417037E06940595
chr14102417088102417170E06940876
chr14102335609102335934E070-40278
chr14102336124102336178E070-40034
chr14102341508102341707E070-34505
chr14102341757102343283E070-32929
chr14102339867102340112E071-36100
chr14102340135102340230E071-35982
chr14102340253102340366E071-35846
chr14102341508102341707E071-34505
chr14102341757102343283E071-32929
chr14102343466102343997E071-32215
chr14102344055102344149E071-32063
chr14102367082102367140E071-9072
chr14102368752102368870E071-7342
chr14102368942102368992E071-7220
chr14102369214102369307E071-6905
chr14102369444102369604E071-6608
chr14102383067102383117E0716855
chr14102383182102383569E0716970
chr14102383587102383755E0717375
chr14102383814102383955E0717602
chr14102383973102384347E0717761
chr14102416143102416202E07139931
chr14102416262102416344E07140050
chr14102341757102343283E072-32929
chr14102343466102343997E072-32215
chr14102344055102344149E072-32063
chr14102344173102345721E072-30491
chr14102345737102345791E072-30421
chr14102345813102345896E072-30316
chr14102346025102346346E072-29866
chr14102368752102368870E072-7342
chr14102368942102368992E072-7220
chr14102369214102369307E072-6905
chr14102369444102369604E072-6608
chr14102369654102369925E072-6287
chr14102375669102375757E072-455
chr14102382926102383038E0726714
chr14102383067102383117E0726855
chr14102383182102383569E0726970
chr14102383587102383755E0727375
chr14102383814102383955E0727602
chr14102383973102384347E0727761
chr14102416143102416202E07239931
chr14102416262102416344E07240050
chr14102416464102416774E07240252
chr14102345737102345791E073-30421
chr14102345813102345896E073-30316
chr14102346025102346346E073-29866
chr14102383587102383755E0737375
chr14102383814102383955E0737602
chr14102383973102384347E0737761
chr14102416143102416202E07339931
chr14102416464102416774E07340252
chr14102417265102417519E07341053
chr14102326822102326929E074-49283
chr14102336608102336879E074-39333
chr14102336994102337223E074-38989
chr14102337315102337355E074-38857
chr14102337381102337437E074-38775
chr14102341757102343283E074-32929
chr14102343466102343997E074-32215
chr14102345737102345791E074-30421
chr14102345813102345896E074-30316
chr14102368752102368870E074-7342
chr14102368942102368992E074-7220
chr14102383587102383755E0747375
chr14102383814102383955E0747602
chr14102383973102384347E0747761
chr14102368752102368870E081-7342
chr14102368942102368992E081-7220
chr14102369214102369307E081-6905









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14102413874102415878E06737662
chr14102413874102415878E06837662
chr14102413874102415878E06937662
chr14102413874102415878E07037662
chr14102413874102415878E07137662
chr14102413874102415878E07237662
chr14102413874102415878E07337662
chr14102413874102415878E07437662
chr14102413874102415878E08137662
chr14102413874102415878E08237662