rs16995232

Homo sapiens
A>G
CELSR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0075 (2259/29920,GnomAD)
G=0116 (3395/29114,TOPMED)
G=0089 (447/5008,1000G)
G=0001 (5/3854,ALSPAC)
G=0001 (5/3708,TWINSUK)
chr22:46421424 (GRCh38.p7) (22q13.31)
ND
GWASdb2
1   publication(s)
See rs on genome
163 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.46421424A>G
GRCh37.p13 chr 22NC_000022.10:g.46817321A>G
CELSR1 RefSeqGeneNG_030466.1:g.120747T>C

Gene: CELSR1, cadherin EGF LAG seven-pass G-type receptor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CELSR1 transcriptNM_014246.1:c.N/AIntron Variant
CELSR1 transcript variant X1XM_006724383.3:c.N/AIntron Variant
CELSR1 transcript variant X2XM_011530553.1:c.N/AIntron Variant
CELSR1 transcript variant X3XM_011530554.2:c.N/AIntron Variant
CELSR1 transcript variant X4XM_011530555.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.719G=0.281
1000GenomesAmericanSub694A=0.970G=0.030
1000GenomesEast AsianSub1008A=0.988G=0.012
1000GenomesEuropeSub1006A=0.998G=0.002
1000GenomesGlobalStudy-wide5008A=0.911G=0.089
1000GenomesSouth AsianSub978A=0.960G=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.999G=0.001
The Genome Aggregation DatabaseAfricanSub8692A=0.748G=0.252
The Genome Aggregation DatabaseAmericanSub838A=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1622A=0.983G=0.017
The Genome Aggregation DatabaseEuropeSub18466A=0.998G=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.924G=0.075
The Genome Aggregation DatabaseOtherSub302A=0.990G=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29114A=0.883G=0.116
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.999G=0.001
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs169952320.000215nicotine dependence17158188

eQTL of rs16995232 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 rs16995232 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 )
chr224681868246819170E0671361
chr224677282646774530E070-42791
chr224677453546774654E070-42667
chr224677472146776175E070-41146
chr224680162646801739E070-15582
chr224680189946802366E070-14955
chr224680248846802569E070-14752
chr224680279546802862E070-14459
chr224680308346803151E070-14170
chr224681209646812195E070-5126
chr224681445046814577E070-2744
chr224681505046815671E070-1650
chr224682481546824855E0707494
chr224682492346824973E0707602
chr224682500246825119E0707681
chr224682512146825284E0707800
chr224682532246825483E0708001
chr224682572646825778E0708405
chr224682579846825840E0708477
chr224682591146826082E0708590
chr224682620846826369E0708887
chr224682640546826476E0709084
chr224682648046826584E0709159
chr224683220546832255E07014884
chr224683230846832462E07014987
chr224683268746833252E07015366
chr224683513346835244E07017812
chr224683528346835333E07017962
chr224683534546835395E07018024
chr224683553246835582E07018211
chr224683563446835697E07018313
chr224683585746835922E07018536
chr224683595946836146E07018638
chr224684859946848743E07031278
chr224684886446849788E07031543
chr224684979646849862E07032475
chr224684992546850020E07032604
chr224685013946850194E07032818
chr224685341346853936E07036092
chr224685400446854197E07036683
chr224685423746854313E07036916
chr224685437046854439E07037049
chr224685457746854627E07037256
chr224685469646854746E07037375
chr224685506746855107E07037746
chr224685522946855284E07037908
chr224685533446855384E07038013
chr224685546046855529E07038139
chr224685557146855611E07038250
chr224685568846855738E07038367
chr224685576046855810E07038439
chr224685743346857748E07040112
chr224685778946857869E07040468
chr224685800446858225E07040683
chr224685831646858445E07040995
chr224686045746860571E07043136
chr224686061546860665E07043294
chr224686073146860825E07043410
chr224677453546774654E071-42667
chr224681868246819170E0721361
chr224681868246819170E0741361
chr224676978946770734E081-46587
chr224677282646774530E081-42791
chr224677453546774654E081-42667
chr224677472146776175E081-41146
chr224678608146786135E081-31186
chr224678618446786312E081-31009
chr224678635146787178E081-30143
chr224681170046812027E081-5294
chr224681209646812195E081-5126
chr224681236946813224E081-4097
chr224681328846813502E081-3819
chr224681386646814013E081-3308
chr224681445046814577E081-2744
chr224681505046815671E081-1650
chr224681585246815946E081-1375
chr224681615946816279E081-1042
chr224681637646816488E081-833
chr224682451446824806E0817193
chr224682481546824855E0817494
chr224682492346824973E0817602
chr224682500246825119E0817681
chr224682512146825284E0817800
chr224682532246825483E0818001
chr224682572646825778E0818405
chr224682579846825840E0818477
chr224683268746833252E08115366
chr224683513346835244E08117812
chr224683528346835333E08117962
chr224683534546835395E08118024
chr224683553246835582E08118211
chr224683563446835697E08118313
chr224683585746835922E08118536
chr224683595946836146E08118638
chr224684886446849788E08131543
chr224684979646849862E08132475
chr224684992546850020E08132604
chr224685013946850194E08132818
chr224685679146856994E08139470
chr224685743346857748E08140112
chr224685778946857869E08140468
chr224685800446858225E08140683
chr224685831646858445E08140995
chr224686061546860665E08143294
chr224686073146860825E08143410
chr224686086346861028E08143542
chr224686122446861660E08143903
chr224686176646862080E08144445
chr224686210646862318E08144785
chr224676978946770734E082-46587
chr224677453546774654E082-42667
chr224677472146776175E082-41146
chr224681170046812027E082-5294
chr224681209646812195E082-5126
chr224681236946813224E082-4097
chr224682481546824855E0827494
chr224682492346824973E0827602
chr224682500246825119E0827681
chr224682512146825284E0827800
chr224682532246825483E0828001
chr224682572646825778E0828405
chr224682579846825840E0828477
chr224682591146826082E0828590
chr224683268746833252E08215366
chr224683553246835582E08218211
chr224683563446835697E08218313
chr224683585746835922E08218536
chr224683595946836146E08218638
chr224684177046841942E08224449
chr224684194946841999E08224628
chr224684211646842198E08224795
chr224684226946842346E08224948
chr224684251146842656E08225190
chr224684280446843045E08225483
chr224684330946843540E08225988
chr224684781346848554E08230492
chr224684859946848743E08231278
chr224684886446849788E08231543
chr224684979646849862E08232475
chr224684992546850020E08232604
chr224685013946850194E08232818
chr224685341346853936E08236092
chr224685400446854197E08236683
chr224685423746854313E08236916
chr224685437046854439E08237049
chr224685457746854627E08237256
chr224685469646854746E08237375
chr224685506746855107E08237746
chr224685522946855284E08237908
chr224685533446855384E08238013
chr224685546046855529E08238139
chr224685557146855611E08238250
chr224685568846855738E08238367
chr224685576046855810E08238439
chr224685743346857748E08240112
chr224685778946857869E08240468
chr224685800446858225E08240683
chr224685831646858445E08240995
chr224686061546860665E08243294
chr224686073146860825E08243410
chr224686086346861028E08243542
chr224686176646862080E08244445
chr224686210646862318E08244785







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr224682809446828916E06710773
chr224682809446828916E06810773
chr224682809446828916E07110773
chr224682809446828916E07210773
chr224682809446828916E07410773