Variant report
| Variant | esv987534 |
|---|---|
| Chromosome Location | chr19:37283844-37284211 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561170925 | chr19:37283867-37283868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142589471 | chr19:37283871-37283872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs371921390 | chr19:37283893-37283894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs150955439 | chr19:37283951-37283952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200166215 | chr19:37283995-37283996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs187185035 | chr19:37284079-37284080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs375197482 | chr19:37284085-37284086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs552774575 | chr19:37284125-37284126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs553486410 | chr19:37284178-37284179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113870300 | chr19:37284179-37284180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140569678 | chr19:37284193-37284194 | 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 |
