Variant report
| Variant | esv14557 |
|---|---|
| Chromosome Location | chr12:39477962-39483489 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CPNE8-2 | chr12:39481529-39481794 | XLOC_010051 |
| 2 | lnc-CPNE8-2 | chr12:39481515-39481794 | ENSG00000258144 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| BCL11B | miRNA target sites |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531212174 | chr12:39481532-39481533 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs186786572 | chr12:39481579-39481580 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs190932160 | chr12:39481658-39481659 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs533521624 | chr12:39481664-39481665 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs546820543 | chr12:39481686-39481687 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs566954917 | chr12:39481727-39481728 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs535485866 | chr12:39481763-39481764 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs537864351 | chr12:39483215-39483216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12826889 | chr12:39483226-39483227 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs367798056 | chr12:39483280-39483281 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs549941430 | chr12:39483401-39483402 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187377444 | chr12:39483413-39483414 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs371836300 | chr12:39483432-39483433 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs34402695 | chr12:39483469-39483470 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs139233629 | chr12:39483487-39483488 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:39477800-39478000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 2 | chr12:39483200-39486200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr12:39483400-39483600 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr12:39483400-39485400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
