Variant report
| Variant | nsv826617 |
|---|---|
| Chromosome Location | chr13:38264260-38264891 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs551191897 | chr13:38264280-38264281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs571281086 | chr13:38264281-38264282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9548018 | chr13:38264350-38264351 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs17201866 | chr13:38264409-38264410 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs189275547 | chr13:38264442-38264443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs553293978 | chr13:38264450-38264451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs9548019 | chr13:38264473-38264474 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs182212238 | chr13:38264600-38264601 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs150794490 | chr13:38264674-38264675 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs139138597 | chr13:38264675-38264676 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs550469694 | chr13:38264695-38264696 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs547757001 | chr13:38264742-38264743 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs370472986 | chr13:38264748-38264749 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs568694387 | chr13:38264783-38264784 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs73186532 | chr13:38264804-38264805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540574860 | chr13:38264817-38264818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs560793984 | chr13:38264860-38264861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs577681891 | chr13:38264884-38264885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 20164920 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Trisomy | 24170809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Alveolar rhabdomyosarcoma | 16790082 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Paraganglioma | 21461997 | CNVD |
| Pheochromocytoma | 21461997 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Monoclonal gammopathy of undetermined significance | 19135901 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Melanoma | 18172304 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| renal disease | 20603712 | CNVD |
| Tracheal agenesis | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:38211400-38275600 | Weak transcription | Stomach Smooth Muscle | stomach |
| 2 | chr13:38254800-38267400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr13:38257400-38282000 | Weak transcription | Ovary | ovary |
| 4 | chr13:38259600-38264600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr13:38260000-38269000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr13:38260000-38273800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr13:38261000-38274000 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 8 | chr13:38261200-38265000 | Weak transcription | Osteobl | bone |
| 9 | chr13:38263200-38265800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 10 | chr13:38264600-38264800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 11 | chr13:38264600-38264800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 12 | chr13:38264800-38267000 | Weak transcription | Fetal Stomach | stomach |
| 13 | chr13:38264800-38269400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
