Variant report
| Variant | esv3352940 |
|---|---|
| Chromosome Location | chr5:120219803-120222501 |
| 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 | chr5:120211985..120214324-chr5:120217571..120220442,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 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 | rs570146008 | chr5:120222225-120222226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142120870 | chr5:120222233-120222234 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs547668545 | chr5:120222239-120222240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs144421283 | chr5:120222302-120222303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs539807405 | chr5:120222318-120222319 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557833982 | chr5:120222328-120222329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570088359 | chr5:120222344-120222345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs537495482 | chr5:120222352-120222353 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs555936979 | chr5:120222366-120222367 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574280696 | chr5:120222389-120222390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147841361 | chr5:120222393-120222394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs368166160 | chr5:120222407-120222408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190881487 | chr5:120222423-120222424 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545703942 | chr5:120222432-120222433 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563877163 | chr5:120222474-120222475 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs148908860 | chr5:120222479-120222480 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs543107570 | chr5:120222489-120222490 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| 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 |
| Colorectal cancer | 16272173 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:120222200-120222400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr5:120222200-120222600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr5:120222400-120227400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
