Variant report
| Variant | esv3528738 |
|---|---|
| Chromosome Location | chr5:116221977-116222263 |
| 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 | chr5:116216466..116219443-chr5:116220949..116224827,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370711592 | chr5:116222004-116222005 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs116682787 | chr5:116222008-116222009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138301648 | chr5:116222032-116222033 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs3073857 | chr5:116222033-116222034 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529429178 | chr5:116222068-116222069 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369272679 | chr5:116222072-116222073 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs386691503 | chr5:116222074-116222075 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs140144348 | chr5:116222132-116222133 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs386508621 | chr5:116222133-116222134 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs375904996 | chr5:116222141-116222142 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs73264821 | chr5:116222183-116222184 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs1972623 | chr5:116222219-116222220 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs562228534 | chr5:116222257-116222258 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:116216200-116224800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr5:116218000-116222600 | Enhancers | GM12878-XiMat | blood |
