Variant report
| Variant | esv3413414 |
|---|---|
| Chromosome Location | chr13:39530501-39530683 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529565311 | chr13:39530503-39530504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs193059358 | chr13:39530506-39530507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184356313 | chr13:39530507-39530508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs139530288 | chr13:39530519-39530520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs9576660 | chr13:39530541-39530542 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs79763497 | chr13:39530551-39530552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189177508 | chr13:39530553-39530554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112432088 | chr13:39530562-39530563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369154269 | chr13:39530578-39530579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201582830 | chr13:39530579-39530580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113942434 | chr13:39530600-39530601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs558184346 | chr13:39530604-39530605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs149422569 | chr13:39530605-39530606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533268610 | chr13:39530606-39530607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs369793293 | chr13:39530607-39530608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs539582329 | chr13:39530608-39530609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368668518 | chr13:39530615-39530616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs143670014 | chr13:39530618-39530619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs34417592 | chr13:39530624-39530625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs71074493 | chr13:39530625-39530626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs181852191 | chr13:39530641-39530642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs186376651 | chr13:39530645-39530646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs189385446 | chr13:39530647-39530648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs180907728 | chr13:39530649-39530650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs186388305 | chr13:39530666-39530667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs191192445 | chr13:39530670-39530671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Melanoma | 18172304 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Chronic lymphocytic leukemia | 17805327 | CNVD |
| Mental retardation | 17502991 | CNVD |
| Retinoblastoma | 17502991 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| microdeletion syndrome | 19284877 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:39520200-39541600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr13:39528000-39532000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
