Variant report
| Variant | esv3441633 |
|---|---|
| Chromosome Location | chr11:26570858-26571035 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs374977217 | chr11:26570864-26570865 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574812716 | chr11:26570875-26570876 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs150320404 | chr11:26570888-26570889 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs115781561 | chr11:26570922-26570923 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs364850 | chr11:26570945-26570946 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs182795501 | chr11:26570953-26570954 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546371553 | chr11:26570969-26570970 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs564867490 | chr11:26570986-26570987 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532213097 | chr11:26570987-26570988 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11029604 | chr11:26570990-26570991 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:26565000-26599200 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 2 | chr11:26570800-26571400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
