Variant report
| Variant | esv1377487 |
|---|---|
| Chromosome Location | chr7:26323600-26323831 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:26237304..26242756-chr7:26323009..26328142,11 | MCF-7 | breast: | |
| 2 | chr7:26237933..26242335-chr7:26322799..26328116,8 | MCF-7 | breast: | |
| 3 | chr7:26224902..26232884-chr7:26322008..26332976,29 | K562 | blood: | |
| 4 | chr7:26224902..26232884-chr7:26322942..26334107,28 | K562 | blood: | |
| 5 | chr7:26237989..26241529-chr7:26322443..26324819,3 | K562 | blood: | |
| 6 | chr7:26236386..26241823-chr7:26322979..26327139,7 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000122566 | chromatin interactions |
| ENSG00000122565 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | rs56214967 | chr7:26323609-26323610 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs6461925 | chr7:26323708-26323709 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs13235851 | chr7:26323741-26323742 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs13307494 | chr7:26323774-26323775 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs527295950 | chr7:26323807-26323808 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs200817266 | chr7:26323831-26323832 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| Urothelial carcinoma | 18382360 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Non-syndromic sensorineural hearing loss | 22570644 | CNVD |
| Cancer | 21183584 | CNVD |
| abnormal development | 18461090 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Breast cancer | 18852474 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:26319400-26324000 | Weak transcription | Placenta | Placenta |
| 2 | chr7:26319400-26326600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 3 | chr7:26320000-26324000 | Weak transcription | HepG2 | liver |
| 4 | chr7:26321000-26324200 | Weak transcription | K562 | blood |
| 5 | chr7:26322400-26326800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 6 | chr7:26322600-26326800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
