Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.139979746T>A |
GRCh37.p13 chr 3 | NC_000003.11:g.139698588T>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CLSTN2 transcript | NM_022131.2:c. | N/A | Intron Variant |
CLSTN2 transcript variant X1 | XM_017007022.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.790 | A=0.210 |
1000Genomes | American | Sub | 694 | T=0.940 | A=0.060 |
1000Genomes | East Asian | Sub | 1008 | T=0.998 | A=0.002 |
1000Genomes | Europe | Sub | 1006 | T=0.914 | A=0.086 |
1000Genomes | Global | Study-wide | 5008 | T=0.907 | A=0.093 |
1000Genomes | South Asian | Sub | 978 | T=0.940 | A=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.917 | A=0.083 |
The Genome Aggregation Database | African | Sub | 8700 | T=0.832 | A=0.168 |
The Genome Aggregation Database | American | Sub | 834 | T=0.960 | A=0.040 |
The Genome Aggregation Database | East Asian | Sub | 1622 | T=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18466 | T=0.925 | A=0.074 |
The Genome Aggregation Database | Global | Study-wide | 29924 | T=0.903 | A=0.096 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.930 | A=0.070 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.882 | A=0.117 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.917 | A=0.083 |
PMID | Title | Author | Journal |
---|---|---|---|
19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs16849613 | 0.00015 | nicotine smoking | 19268276 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr3 | 139656646 | 139656807 | E067 | -41781 |
chr3 | 139657084 | 139657274 | E067 | -41314 |
chr3 | 139726861 | 139727082 | E067 | 28273 |
chr3 | 139727332 | 139727697 | E067 | 28744 |
chr3 | 139731913 | 139732568 | E067 | 33325 |
chr3 | 139740201 | 139740446 | E067 | 41613 |
chr3 | 139741253 | 139741507 | E067 | 42665 |
chr3 | 139742125 | 139742241 | E067 | 43537 |
chr3 | 139742446 | 139742818 | E067 | 43858 |
chr3 | 139657084 | 139657274 | E068 | -41314 |
chr3 | 139727332 | 139727697 | E068 | 28744 |
chr3 | 139738831 | 139739135 | E068 | 40243 |
chr3 | 139740201 | 139740446 | E068 | 41613 |
chr3 | 139741253 | 139741507 | E068 | 42665 |
chr3 | 139742125 | 139742241 | E068 | 43537 |
chr3 | 139742446 | 139742818 | E068 | 43858 |
chr3 | 139726163 | 139726236 | E069 | 27575 |
chr3 | 139726861 | 139727082 | E069 | 28273 |
chr3 | 139727332 | 139727697 | E069 | 28744 |
chr3 | 139740026 | 139740099 | E069 | 41438 |
chr3 | 139740201 | 139740446 | E069 | 41613 |
chr3 | 139741253 | 139741507 | E069 | 42665 |
chr3 | 139742125 | 139742241 | E069 | 43537 |
chr3 | 139742446 | 139742818 | E069 | 43858 |
chr3 | 139725303 | 139725403 | E070 | 26715 |
chr3 | 139725923 | 139725977 | E070 | 27335 |
chr3 | 139726024 | 139726099 | E070 | 27436 |
chr3 | 139726163 | 139726236 | E070 | 27575 |
chr3 | 139726861 | 139727082 | E070 | 28273 |
chr3 | 139727332 | 139727697 | E070 | 28744 |
chr3 | 139739723 | 139739778 | E070 | 41135 |
chr3 | 139741253 | 139741507 | E070 | 42665 |
chr3 | 139742125 | 139742241 | E070 | 43537 |
chr3 | 139742446 | 139742818 | E070 | 43858 |
chr3 | 139726861 | 139727082 | E071 | 28273 |
chr3 | 139727332 | 139727697 | E071 | 28744 |
chr3 | 139731913 | 139732568 | E071 | 33325 |
chr3 | 139738579 | 139738636 | E071 | 39991 |
chr3 | 139738831 | 139739135 | E071 | 40243 |
chr3 | 139739723 | 139739778 | E071 | 41135 |
chr3 | 139740026 | 139740099 | E071 | 41438 |
chr3 | 139740201 | 139740446 | E071 | 41613 |
chr3 | 139741253 | 139741507 | E071 | 42665 |
chr3 | 139742125 | 139742241 | E071 | 43537 |
chr3 | 139742446 | 139742818 | E071 | 43858 |
chr3 | 139725303 | 139725403 | E072 | 26715 |
chr3 | 139725923 | 139725977 | E072 | 27335 |
chr3 | 139726024 | 139726099 | E072 | 27436 |
chr3 | 139726163 | 139726236 | E072 | 27575 |
chr3 | 139726861 | 139727082 | E072 | 28273 |
chr3 | 139727332 | 139727697 | E072 | 28744 |
chr3 | 139731913 | 139732568 | E072 | 33325 |
chr3 | 139734044 | 139734132 | E072 | 35456 |
chr3 | 139739723 | 139739778 | E072 | 41135 |
chr3 | 139740026 | 139740099 | E072 | 41438 |
chr3 | 139740201 | 139740446 | E072 | 41613 |
chr3 | 139741253 | 139741507 | E072 | 42665 |
chr3 | 139742125 | 139742241 | E072 | 43537 |
chr3 | 139742446 | 139742818 | E072 | 43858 |
chr3 | 139731913 | 139732568 | E073 | 33325 |
chr3 | 139740026 | 139740099 | E073 | 41438 |
chr3 | 139740201 | 139740446 | E073 | 41613 |
chr3 | 139741253 | 139741507 | E073 | 42665 |
chr3 | 139742125 | 139742241 | E073 | 43537 |
chr3 | 139742446 | 139742818 | E073 | 43858 |
chr3 | 139726861 | 139727082 | E074 | 28273 |
chr3 | 139727332 | 139727697 | E074 | 28744 |
chr3 | 139734044 | 139734132 | E074 | 35456 |
chr3 | 139738831 | 139739135 | E074 | 40243 |
chr3 | 139739723 | 139739778 | E074 | 41135 |
chr3 | 139740026 | 139740099 | E074 | 41438 |
chr3 | 139740201 | 139740446 | E074 | 41613 |
chr3 | 139741253 | 139741507 | E074 | 42665 |
chr3 | 139742125 | 139742241 | E074 | 43537 |
chr3 | 139742446 | 139742818 | E074 | 43858 |
chr3 | 139731913 | 139732568 | E081 | 33325 |
chr3 | 139735035 | 139735096 | E081 | 36447 |
chr3 | 139738342 | 139738485 | E081 | 39754 |
chr3 | 139738579 | 139738636 | E081 | 39991 |
chr3 | 139741253 | 139741507 | E081 | 42665 |
chr3 | 139742125 | 139742241 | E081 | 43537 |
chr3 | 139742446 | 139742818 | E081 | 43858 |
chr3 | 139694587 | 139694693 | E082 | -3895 |
chr3 | 139694704 | 139694754 | E082 | -3834 |
chr3 | 139694916 | 139695018 | E082 | -3570 |
chr3 | 139695207 | 139695269 | E082 | -3319 |
chr3 | 139726861 | 139727082 | E082 | 28273 |
chr3 | 139727332 | 139727697 | E082 | 28744 |
chr3 | 139731913 | 139732568 | E082 | 33325 |
chr3 | 139741253 | 139741507 | E082 | 42665 |
chr3 | 139742125 | 139742241 | E082 | 43537 |
chr3 | 139742446 | 139742818 | E082 | 43858 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 139653394 | 139655357 | E067 | -43231 |
chr3 | 139655390 | 139655551 | E067 | -43037 |
chr3 | 139653258 | 139653341 | E068 | -45247 |
chr3 | 139653394 | 139655357 | E068 | -43231 |
chr3 | 139655390 | 139655551 | E068 | -43037 |
chr3 | 139653258 | 139653341 | E069 | -45247 |
chr3 | 139653394 | 139655357 | E069 | -43231 |
chr3 | 139653394 | 139655357 | E071 | -43231 |
chr3 | 139653258 | 139653341 | E072 | -45247 |
chr3 | 139653394 | 139655357 | E072 | -43231 |
chr3 | 139655390 | 139655551 | E072 | -43037 |
chr3 | 139653394 | 139655357 | E073 | -43231 |
chr3 | 139653394 | 139655357 | E074 | -43231 |
chr3 | 139655390 | 139655551 | E074 | -43037 |
chr3 | 139653394 | 139655357 | E082 | -43231 |