Variant report
| Variant | nsv964070 |
|---|---|
| Chromosome Location | chr4:92858441-92861718 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:92852985..92854522-chr4:92856972..92859223,2 | K562 | blood: |
| 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 | rs535138216 | chr4:92858445-92858446 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs1485986 | chr4:92858474-92858475 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs1485985 | chr4:92858483-92858484 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs542852432 | chr4:92858507-92858508 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562532223 | chr4:92858511-92858512 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564782674 | chr4:92858567-92858568 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs369146290 | chr4:92858581-92858582 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs544876235 | chr4:92858582-92858583 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577887200 | chr4:92858607-92858608 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564555331 | chr4:92858611-92858612 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs527252953 | chr4:92858624-92858625 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113639923 | chr4:92858635-92858636 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs561087130 | chr4:92858655-92858656 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs565900702 | chr4:92858711-92858712 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539486757 | chr4:92858712-92858713 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs35347378 | chr4:92858721-92858722 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs188931684 | chr4:92858766-92858767 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs529745136 | chr4:92858770-92858771 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550386200 | chr4:92858779-92858780 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs181662396 | chr4:92858780-92858781 | ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs28641542 | chr4:92858822-92858823 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs375458931 | chr4:92858830-92858831 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs368758720 | chr4:92858843-92858844 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs185397983 | chr4:92858844-92858845 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs566085354 | chr4:92858897-92858898 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs142458131 | chr4:92858922-92858923 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:85)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Parkinson disease | 18923514 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Autism | 18414403 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Parkinson disease | 20877625 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Obesity | 20622171 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cancer | 20164920 | CNVD |
| Cancer | 20164919 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:92854400-92859000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr4:92856400-92858800 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
