Variant report
| Variant | nsv293123 |
|---|---|
| Chromosome Location | chr4:97975614-97980854 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs145443023 | chr4:97979631-97979632 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548655439 | chr4:97979636-97979637 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560531774 | chr4:97979671-97979672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs527842653 | chr4:97979719-97979720 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552928225 | chr4:97979742-97979743 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs17519108 | chr4:97979768-97979769 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs550347199 | chr4:97979800-97979801 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554001626 | chr4:97979801-97979802 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115592578 | chr4:97979837-97979838 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535969958 | chr4:97979858-97979859 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs116178017 | chr4:97979861-97979862 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540050792 | chr4:97979865-97979866 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572717485 | chr4:97979933-97979934 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs17026349 | chr4:97979935-97979936 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs72880581 | chr4:97979963-97979964 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs375433556 | chr4:97979971-97979972 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs72880583 | chr4:97979972-97979973 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs544484810 | chr4:97979984-97979985 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| 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 |
| 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 |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Autism | 18414403 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Cancer | 19907438 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 19197363 | CNVD |
| Melanoma | 20688739 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:97979600-97980000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
