Variant report
| Variant | esv1409560 |
|---|---|
| Chromosome Location | chr7:6524886-6524890 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:6485398..6489202-chr7:6520855..6525273,5 | MCF-7 | breast: | |
| 2 | chr7:6521681..6526038-chr7:6526623..6531331,7 | K562 | blood: | |
| 3 | chr7:6486201..6489628-chr7:6522463..6525039,4 | MCF-7 | breast: | |
| 4 | chr7:6523102..6525727-chr7:6628447..6631086,2 | MCF-7 | breast: | |
| 5 | chr7:6523333..6525416-chr7:6628158..6630053,2 | K562 | blood: | |
| 6 | chr7:6522590..6525464-chr7:6629667..6631342,2 | K562 | blood: | |
| 7 | chr7:6522385..6525546-chr7:6675389..6679461,5 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000232581 | chromatin interactions |
| ENSG00000146576 | chromatin interactions |
| ENSG00000205903 | chromatin interactions |
| ENSG00000231359 | chromatin interactions |
| ENSG00000164535 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs56175613 | chr7:6524887-6524888 | Weak transcription Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 2 | rs556889756 | chr7:6524888-6524889 | Weak transcription Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 3 | rs113690681 | chr7:6524890-6524891 | Weak transcription Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| Lynch syndrome | 22585707 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Raine Syndrome | 17924334 | CNVD |
| Diffuse large b-cell lymphoma | 21266526 | CNVD |
| Melanoma | 18172304 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Glioma | 18556773 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| 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 |
| 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 |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Glioblastoma multiforme | 21525872 | CNVD |
| Autism | 20685689 | CNVD |
| Intracranial arachnoid cysts | 20187927 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:6523800-6526000 | Enhancers | Placenta | Placenta |
| 2 | chr7:6523800-6526600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr7:6523800-6526600 | Weak transcription | Gastric | stomach |
| 4 | chr7:6523800-6536600 | Weak transcription | Spleen | Spleen |
| 5 | chr7:6524400-6526200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr7:6524400-6529200 | Weak transcription | Right Atrium | heart |
| 7 | chr7:6524600-6529400 | Weak transcription | Fetal Brain Female | brain |
| 8 | chr7:6524800-6528400 | Weak transcription | Esophagus | oesophagus |
