Variant report
| Variant | esv3390079 |
|---|---|
| Chromosome Location | chr12:48670432-48670656 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48642199..48644196-chr12:48668410..48670451,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7134201 | chr12:48670491-48670492 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs560198715 | chr12:48670497-48670498 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181202996 | chr12:48670529-48670530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369269396 | chr12:48670530-48670531 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs143323280 | chr12:48670531-48670532 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs35053314 | chr12:48670544-48670545 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs60722396 | chr12:48670545-48670546 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546460386 | chr12:48670562-48670563 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187088453 | chr12:48670575-48670576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563071752 | chr12:48670589-48670590 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532072311 | chr12:48670615-48670616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs191472749 | chr12:48670635-48670636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568631383 | chr12:48670639-48670640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| 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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48669600-48675600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr12:48670400-48670600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
