Variant report
| Variant | nsv292108 |
|---|---|
| Chromosome Location | chr4:186955437-186955526 |
| 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 | rs77685608 | chr4:186955437-186955438 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563564581 | chr4:186955438-186955439 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs79309388 | chr4:186955445-186955446 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs199807699 | chr4:186955465-186955466 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200791260 | chr4:186955466-186955467 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201964263 | chr4:186955467-186955468 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201363805 | chr4:186955481-186955482 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs28398901 | chr4:186955512-186955513 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76848562 | chr4:186955515-186955516 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12650402 | chr4:186955518-186955519 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs7671300 | chr4:186955526-186955527 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| 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 |
| 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 |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21633010 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20581869 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| abnormal development | 18461090 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Facioscapulohumeral muscular dystrophy | 21829175 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 18414403 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:186952800-186959200 | Weak transcription | Colon Smooth Muscle | Colon |
| 2 | chr4:186953000-186955800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr4:186953400-186958000 | Weak transcription | Right Ventricle | heart |
| 4 | chr4:186953600-186956800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr4:186954000-186955800 | Weak transcription | Fetal Kidney | kidney |
| 6 | chr4:186954800-186956000 | Weak transcription | Fetal Brain Male | brain |
| 7 | chr4:186954800-186956200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 8 | chr4:186955200-186956600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr4:186955400-186956400 | ZNF genes & repeats | Fetal Heart | heart |
