Variant report
| Variant | esv3516599 |
|---|---|
| Chromosome Location | chr14:85139146-85139627 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs540622605 | chr14:85139166-85139167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552940982 | chr14:85139180-85139181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs555692068 | chr14:85139191-85139192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138289161 | chr14:85139192-85139193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs541750845 | chr14:85139236-85139237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs149587162 | chr14:85139262-85139263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559439015 | chr14:85139285-85139286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181886866 | chr14:85139326-85139327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144305810 | chr14:85139384-85139385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs565188668 | chr14:85139387-85139388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs573952335 | chr14:85139391-85139392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs541532834 | chr14:85139403-85139404 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs532650522 | chr14:85139404-85139405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs369150953 | chr14:85139542-85139543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs386382015 | chr14:85139543-85139544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs386382016 | chr14:85139555-85139556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs71117738 | chr14:85139556-85139557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs547468096 | chr14:85139599-85139600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:85135600-85143600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
