Variant report
| Variant | esv3525274 |
|---|---|
| Chromosome Location | chr5:128327702-128328034 |
| 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 | chr5:128327480..128330043-chr5:128331168..128333231,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs116693705 | chr5:128327761-128327762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs549226670 | chr5:128327772-128327773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs566137788 | chr5:128327820-128327821 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7723102 | chr5:128327823-128327824 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs535485424 | chr5:128327877-128327878 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs190929642 | chr5:128327880-128327881 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs547573187 | chr5:128327902-128327903 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs73784818 | chr5:128327909-128327910 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs139406154 | chr5:128327937-128327938 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556475201 | chr5:128327970-128327971 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| 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 |
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:128309600-128338200 | Weak transcription | Left Ventricle | heart |
| 2 | chr5:128320800-128328000 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 3 | chr5:128321000-128335000 | Weak transcription | Fetal Heart | heart |
| 4 | chr5:128326600-128335000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr5:128326800-128327800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr5:128327000-128328200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 7 | chr5:128327400-128327800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr5:128327800-128328000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 9 | chr5:128327800-128328200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr5:128328000-128329000 | Enhancers | Placenta Amnion | Placenta Amnion |
