Variant report
| Variant | esv3508155 |
|---|---|
| Chromosome Location | chr19:37284164-37284730 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs553486410 | chr19:37284178-37284179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113870300 | chr19:37284179-37284180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs140569678 | chr19:37284193-37284194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs112583636 | chr19:37284245-37284246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565686373 | chr19:37284261-37284262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs535838960 | chr19:37284282-37284283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs141840898 | chr19:37284335-37284336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554153367 | chr19:37284431-37284432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200480094 | chr19:37284624-37284625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201775848 | chr19:37284625-37284626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199497454 | chr19:37284626-37284627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200584520 | chr19:37284627-37284628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs145774483 | chr19:37284671-37284672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189303588 | chr19:37284689-37284690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs138490680 | chr19:37284699-37284700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs141392112 | chr19:37284724-37284725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| renal disease | 20603712 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
| Rhabdomyosarcoma | 16790082 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioma | 17123091 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Mental retardation | 19951919 | CNVD |
| 19q13.11 deletion syndrome | 22378287 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:37282600-37286200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 2 | chr19:37282600-37287800 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 3 | chr19:37283000-37287600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 4 | chr19:37283200-37287400 | Weak transcription | Right Ventricle | heart |
