rs10044218

Homo sapiens
A>G
CTNND2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0207 (6215/29940,GnomAD)
G=0265 (7724/29118,TOPMED)
G=0237 (1185/5008,1000G)
G=0052 (199/3854,ALSPAC)
G=0049 (183/3708,TWINSUK)
chr5:11412934 (GRCh38.p7) (5p15.2)
ND
GWASdb2
1   publication(s)
See rs on genome
125 Enhancers around
74 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.11412934A>G
GRCh37.p13 chr 5NC_000005.9:g.11413046A>G
CTNND2 RefSeqGeneNG_023544.1:g.496065T>C

Gene: CTNND2, catenin delta 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CTNND2 transcript variant 2NM_001288715.1:c.N/AIntron Variant
CTNND2 transcript variant 3NM_001288716.1:c.N/AIntron Variant
CTNND2 transcript variant 4NM_001288717.1:c.N/AIntron Variant
CTNND2 transcript variant 1NM_001332.3:c.N/AIntron Variant
CTNND2 transcript variant 5NR_109988.1:n.N/AIntron Variant
CTNND2 transcript variant X1XM_005248251.3:c.N/AIntron Variant
CTNND2 transcript variant X2XM_005248252.2:c.N/AIntron Variant
CTNND2 transcript variant X3XM_005248253.1:c.N/AIntron Variant
CTNND2 transcript variant X4XM_011513967.2:c.N/AIntron Variant
CTNND2 transcript variant X5XM_017009072.1:c.N/AIntron Variant
CTNND2 transcript variant X6XM_017009073.1:c.N/AIntron Variant
CTNND2 transcript variant X7XM_017009074.1:c.N/AIntron Variant
CTNND2 transcript variant X8XM_017009075.1:c.N/AIntron Variant
CTNND2 transcript variant X9XM_017009076.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.371G=0.629
1000GenomesAmericanSub694A=0.870G=0.130
1000GenomesEast AsianSub1008A=0.884G=0.116
1000GenomesEuropeSub1006A=0.945G=0.055
1000GenomesGlobalStudy-wide5008A=0.763G=0.237
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.948G=0.052
The Genome Aggregation DatabaseAfricanSub8708A=0.462G=0.538
The Genome Aggregation DatabaseAmericanSub836A=0.870G=0.130
The Genome Aggregation DatabaseEast AsianSub1614A=0.859G=0.141
The Genome Aggregation DatabaseEuropeSub18480A=0.936G=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.792G=0.207
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.734G=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.951G=0.049
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
rs100442180.000234nicotine smoking19268276

eQTL of rs10044218 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 rs10044218 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 )
chr51136395211364031E067-49015
chr51137269011372747E067-40299
chr51138648011386617E067-26429
chr51138685211386919E067-26127
chr51141581811416091E0672772
chr51142532611425477E06712280
chr51144768311447778E06734637
chr51144948011449642E06736434
chr51145314211453201E06740096
chr51145335911453409E06740313
chr51145346711453568E06740421
chr51136505611365251E068-47795
chr51136564411365694E068-47352
chr51137109611371278E068-41768
chr51137131211371521E068-41525
chr51137269011372747E068-40299
chr51138153511381595E068-31451
chr51138685211386919E068-26127
chr51138856811388618E068-24428
chr51139783711397913E068-15133
chr51140425411404304E068-8742
chr51140762911407908E068-5138
chr51141581811416091E0682772
chr51142661011426671E06813564
chr51142951511429565E06816469
chr51144330211443362E06830256
chr51144382311444248E06830777
chr51145314211453201E06840096
chr51145335911453409E06840313
chr51145346711453568E06840421
chr51137269011372747E069-40299
chr51138648011386617E069-26429
chr51138685211386919E069-26127
chr51139900311399053E069-13993
chr51140425411404304E069-8742
chr51140762911407908E069-5138
chr51141581811416091E0692772
chr51142252911422843E0699483
chr51144382311444248E06930777
chr51144948011449642E06936434
chr51145314211453201E06940096
chr51145335911453409E06940313
chr51145346711453568E06940421
chr51137269011372747E070-40299
chr51138685211386919E070-26127
chr51139719711397343E070-15703
chr51140762911407908E070-5138
chr51141581811416091E0702772
chr51144330211443362E07030256
chr51144382311444248E07030777
chr51136505611365251E071-47795
chr51136564411365694E071-47352
chr51137109611371278E071-41768
chr51137131211371521E071-41525
chr51137269011372747E071-40299
chr51138153511381595E071-31451
chr51138685211386919E071-26127
chr51138856811388618E071-24428
chr51139037211390767E071-22279
chr51140425411404304E071-8742
chr51141581811416091E0712772
chr51142252911422843E0719483
chr51142951511429565E07116469
chr51145314211453201E07140096
chr51145335911453409E07140313
chr51145346711453568E07140421
chr51136505611365251E072-47795
chr51136564411365694E072-47352
chr51136865411368743E072-44303
chr51137109611371278E072-41768
chr51137131211371521E072-41525
chr51137269011372747E072-40299
chr51138153511381595E072-31451
chr51138685211386919E072-26127
chr51138856811388618E072-24428
chr51139900311399053E072-13993
chr51141581811416091E0722772
chr51144330211443362E07230256
chr51144768311447778E07234637
chr51144948011449642E07236434
chr51145314211453201E07240096
chr51145335911453409E07240313
chr51145346711453568E07240421
chr51137269011372747E073-40299
chr51138685211386919E073-26127
chr51138856811388618E073-24428
chr51139037211390767E073-22279
chr51140762911407908E073-5138
chr51144330211443362E07330256
chr51136865411368743E074-44303
chr51137109611371278E074-41768
chr51137131211371521E074-41525
chr51137269011372747E074-40299
chr51138153511381595E074-31451
chr51138685211386919E074-26127
chr51138856811388618E074-24428
chr51139037211390767E074-22279
chr51139900311399053E074-13993
chr51140425411404304E074-8742
chr51140762911407908E074-5138
chr51141581811416091E0742772
chr51144768311447778E07434637
chr51145314211453201E07440096
chr51145335911453409E07440313
chr51145346711453568E07440421
chr51136505611365251E081-47795
chr51136564411365694E081-47352
chr51136648711366770E081-46276
chr51138648011386617E081-26429
chr51138685211386919E081-26127
chr51139037211390767E081-22279
chr51142252911422843E0819483
chr51143165011431828E08118604
chr51143227111432663E08119225
chr51144330211443362E08130256
chr51144382311444248E08130777
chr51136564411365694E082-47352
chr51136648711366770E082-46276
chr51138648011386617E082-26429
chr51138685211386919E082-26127
chr51139037211390767E082-22279
chr51139719711397343E082-15703
chr51143165011431828E08218604
chr51143227111432663E08219225
chr51144382311444248E08230777










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51138364411384095E067-28951
chr51138416511384272E067-28774
chr51138438611384449E067-28597
chr51138448711385231E067-27815
chr51138537311385453E067-27593
chr51138549011385575E067-27471
chr51138579611386033E067-27013
chr51138605811386449E067-26597
chr51140805511408128E067-4918
chr51138364411384095E068-28951
chr51138416511384272E068-28774
chr51138438611384449E068-28597
chr51138448711385231E068-27815
chr51138537311385453E068-27593
chr51138549011385575E068-27471
chr51138579611386033E068-27013
chr51138605811386449E068-26597
chr51140805511408128E068-4918
chr51138364411384095E069-28951
chr51138416511384272E069-28774
chr51138438611384449E069-28597
chr51138448711385231E069-27815
chr51138537311385453E069-27593
chr51138549011385575E069-27471
chr51138579611386033E069-27013
chr51140805511408128E069-4918
chr51138364411384095E070-28951
chr51138416511384272E070-28774
chr51138448711385231E070-27815
chr51138537311385453E070-27593
chr51138549011385575E070-27471
chr51138579611386033E070-27013
chr51138605811386449E070-26597
chr51138364411384095E071-28951
chr51138416511384272E071-28774
chr51138438611384449E071-28597
chr51138448711385231E071-27815
chr51138537311385453E071-27593
chr51138549011385575E071-27471
chr51138579611386033E071-27013
chr51138605811386449E071-26597
chr51140805511408128E071-4918
chr51138364411384095E072-28951
chr51138416511384272E072-28774
chr51138438611384449E072-28597
chr51138448711385231E072-27815
chr51138537311385453E072-27593
chr51138549011385575E072-27471
chr51138579611386033E072-27013
chr51138605811386449E072-26597
chr51140805511408128E072-4918
chr51138364411384095E073-28951
chr51138416511384272E073-28774
chr51138438611384449E073-28597
chr51138448711385231E073-27815
chr51138537311385453E073-27593
chr51138549011385575E073-27471
chr51138579611386033E073-27013
chr51138605811386449E073-26597
chr51138364411384095E074-28951
chr51138416511384272E074-28774
chr51138438611384449E074-28597
chr51138448711385231E074-27815
chr51138537311385453E074-27593
chr51138549011385575E074-27471
chr51138579611386033E074-27013
chr51138605811386449E074-26597
chr51140805511408128E074-4918
chr51138416511384272E082-28774
chr51138438611384449E082-28597
chr51138448711385231E082-27815
chr51138537311385453E082-27593
chr51138549011385575E082-27471
chr51138579611386033E082-27013