Variant report
| Variant | esv3424668 |
|---|---|
| Chromosome Location | chr4:125768384-125768996 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:125766671..125769138-chr4:125772617..125775217,3 | MCF-7 | breast: |
| 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 | rs370614409 | chr4:125768422-125768423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs573853133 | chr4:125768440-125768441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9307552 | chr4:125768450-125768451 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs563129988 | chr4:125768454-125768455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs530446380 | chr4:125768575-125768576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548930549 | chr4:125768592-125768593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs562991367 | chr4:125768650-125768651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs560854313 | chr4:125768660-125768661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs35513660 | chr4:125768662-125768663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528167012 | chr4:125768668-125768669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs546524011 | chr4:125768718-125768719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs571100967 | chr4:125768779-125768780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs112472694 | chr4:125768790-125768791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112902041 | chr4:125768843-125768844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs538404148 | chr4:125768881-125768882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs550461112 | chr4:125768897-125768898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187171096 | chr4:125768917-125768918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs536263874 | chr4:125768966-125768967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| 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 |
| 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 |
| Breast cancer | 17603634 | CNVD |
| Esophageal squamous carcinoma | 18350619 | 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 |
| 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 |
| Cancer | 21183584 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:125767200-125768400 | Enhancers | NHEK | skin |
| 2 | chr4:125767400-125768400 | Enhancers | HMEC | breast |
| 3 | chr4:125768000-125773000 | Weak transcription | Placenta Amnion | Placenta Amnion |
