Variant report
| Variant | esv3444954 |
|---|---|
| Chromosome Location | chr5:128119903-128122901 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201219208 | chr5:128119960-128119961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs397709531 | chr5:128119961-128119962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs33978162 | chr5:128119992-128119993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542630439 | chr5:128120015-128120016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs574325241 | chr5:128120054-128120055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs559716454 | chr5:128120125-128120126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528545579 | chr5:128120143-128120144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs145053566 | chr5:128120161-128120162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs371563578 | chr5:128120228-128120229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533194358 | chr5:128120263-128120264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs550025678 | chr5:128120282-128120283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs569821614 | chr5:128120297-128120298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529202522 | chr5:128120313-128120314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs6876157 | chr5:128120344-128120345 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs34818915 | chr5:128120385-128120386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565339860 | chr5:128120387-128120388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:74)
| Disease | PMID | Source |
|---|---|---|
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:128118400-128120200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr5:128120200-128120400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
