Variant report
| Variant | esv3415979 |
|---|---|
| Chromosome Location | chr16:34949301-34951149 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs566521351 | chr16:34949340-34949341 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs74388518 | chr16:34949348-34949349 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183700600 | chr16:34949375-34949376 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs533690105 | chr16:34949404-34949405 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547285894 | chr16:34949409-34949410 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375628266 | chr16:34949416-34949417 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs565473096 | chr16:34949433-34949434 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532526454 | chr16:34949440-34949441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140739317 | chr16:34949485-34949486 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146900598 | chr16:34949494-34949495 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147968413 | chr16:34949508-34949509 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs9921179 | chr16:34949513-34949514 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs533812570 | chr16:34949544-34949545 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs186472779 | chr16:34949563-34949564 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs570443452 | chr16:34949565-34949566 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537448199 | chr16:34949574-34949575 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555783078 | chr16:34949613-34949614 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs574145701 | chr16:34949636-34949637 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs541543943 | chr16:34949650-34949651 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs554828835 | chr16:34949653-34949654 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs573369036 | chr16:34949657-34949658 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs540498207 | chr16:34949685-34949686 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs565569558 | chr16:34949691-34949692 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs191721075 | chr16:34949710-34949711 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs141749873 | chr16:34949775-34949776 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs562874089 | chr16:34949797-34949798 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 22566537 | CNVD |
| Intellectual disability | 22566537 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| 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 |
| Ductal carcinoma | 22052326 | 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 |
| Breast cancer | 21858162 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21785460 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Benign familial neonatal-infantile seizures | 21060786 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Cancer | 21183584 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:34948800-34949800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 2 | chr16:34949200-34949800 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
