Variant report
| Variant | esv14122 |
|---|---|
| Chromosome Location | chr16:48510311-48510957 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs13330965 | chr16:48510330-48510331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572218925 | chr16:48510391-48510392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs541018628 | chr16:48510470-48510471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563960630 | chr16:48510509-48510510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs192909297 | chr16:48510608-48510609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543374205 | chr16:48510626-48510627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs113118280 | chr16:48510636-48510637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143669734 | chr16:48510649-48510650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs549017658 | chr16:48510659-48510660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs79309619 | chr16:48510790-48510791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs74598935 | chr16:48510836-48510837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs551733821 | chr16:48510849-48510850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571575624 | chr16:48510857-48510858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs184850314 | chr16:48510890-48510891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs115091839 | chr16:48510939-48510940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Disease | 22140031 | CNVD |
| Non-syndromic sensorineural hearing loss | 22140031 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:48508200-48512800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
