Variant report
| Variant | esv3410332 |
|---|---|
| Chromosome Location | chr4:153098124-153098434 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs566093614 | chr4:153098139-153098140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs150754831 | chr4:153098174-153098175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs558431774 | chr4:153098192-153098193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs35985138 | chr4:153098200-153098201 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs544035662 | chr4:153098201-153098202 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs35225072 | chr4:153098203-153098204 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs574222493 | chr4:153098232-153098233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs116501701 | chr4:153098280-153098281 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559687161 | chr4:153098331-153098332 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs139102358 | chr4:153098348-153098349 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs545773873 | chr4:153098364-153098365 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs75478779 | chr4:153098370-153098371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531387436 | chr4:153098381-153098382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs550026711 | chr4:153098398-153098399 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs561885708 | chr4:153098427-153098428 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| 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 |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Esophageal squamous carcinoma | 18350619 | 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 |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 21183584 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | 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 |
| 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 |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21633010 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 17588203 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:153097000-153109000 | Weak transcription | Right Atrium | heart |
| 2 | chr4:153097800-153099600 | Weak transcription | Thymus | Thymus |
| 3 | chr4:153098200-153099600 | Enhancers | K562 | blood |
