Variant report
| Variant | esv3364707 |
|---|---|
| Chromosome Location | chr13:95376379-95376865 |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs182978963 | chr13:95376381-95376382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4454831 | chr13:95376440-95376441 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs386773524 | chr13:95376449-95376450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs527534145 | chr13:95376452-95376453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547654114 | chr13:95376454-95376455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs7982968 | chr13:95376458-95376459 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs533079886 | chr13:95376487-95376488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs188106568 | chr13:95376491-95376492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568921011 | chr13:95376493-95376494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564537014 | chr13:95376544-95376545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538292840 | chr13:95376549-95376550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548443768 | chr13:95376550-95376551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568632872 | chr13:95376555-95376556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs534165448 | chr13:95376582-95376583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572489634 | chr13:95376590-95376591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs554426084 | chr13:95376659-95376660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577575751 | chr13:95376670-95376671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573049813 | chr13:95376705-95376706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs148327830 | chr13:95376712-95376713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs74956420 | chr13:95376721-95376722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs112661028 | chr13:95376722-95376723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs78938825 | chr13:95376729-95376730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs9561675 | chr13:95376730-95376731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs112317224 | chr13:95376737-95376738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs561665468 | chr13:95376766-95376767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs75370779 | chr13:95376794-95376795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs545353872 | chr13:95376800-95376801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs192913457 | chr13:95376818-95376819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs563955593 | chr13:95376820-95376821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs533018888 | chr13:95376846-95376847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs561251576 | chr13:95376847-95376848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:95375400-95376800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr13:95375400-95378200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
