Variant report
| Variant | esv3420830 |
|---|---|
| Chromosome Location | chr13:65637601-65638749 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs550575847 | chr13:65638017-65638018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs201048632 | chr13:65638022-65638023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs58784087 | chr13:65638023-65638024 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs80317155 | chr13:65638024-65638025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149066642 | chr13:65638046-65638047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539087093 | chr13:65638110-65638111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559101644 | chr13:65638120-65638121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112431895 | chr13:65638207-65638208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200483258 | chr13:65638208-65638209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201564446 | chr13:65638209-65638210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201960350 | chr13:65638210-65638211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs575108168 | chr13:65638271-65638272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs542204238 | chr13:65638274-65638275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs372713810 | chr13:65638303-65638304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs528087569 | chr13:65638326-65638327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs142106172 | chr13:65638358-65638359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs559531951 | chr13:65638377-65638378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs73504687 | chr13:65638392-65638393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs369069131 | chr13:65638419-65638420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs550786367 | chr13:65638476-65638477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs76123968 | chr13:65638535-65638536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs201836283 | chr13:65638565-65638566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs530064323 | chr13:65638567-65638568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs546921527 | chr13:65638593-65638594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs566830384 | chr13:65638638-65638639 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs200446088 | chr13:65638657-65638658 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs567034779 | chr13:65638730-65638731 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| 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 | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Paraganglioma | 21461997 | CNVD |
| Pheochromocytoma | 21461997 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Merkel cell carcinoma | 19020549 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| abnormal development | 18461090 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:65638000-65638600 | Enhancers | A549 | lung |
| 2 | chr13:65638000-65639600 | Enhancers | Fetal Heart | heart |
| 3 | chr13:65638600-65639600 | Weak transcription | A549 | lung |
