Variant report
| Variant | esv3346569 |
|---|---|
| Chromosome Location | chr11:24587201-24589649 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533886449 | chr11:24587214-24587215 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs553893622 | chr11:24587249-24587250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191072432 | chr11:24587319-24587320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs148050149 | chr11:24587332-24587333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536424745 | chr11:24587373-24587374 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12364600 | chr11:24589239-24589240 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs565889687 | chr11:24589317-24589318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs147466184 | chr11:24589331-24589332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558131318 | chr11:24589424-24589425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191147619 | chr11:24589432-24589433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576948797 | chr11:24589467-24589468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139848708 | chr11:24589508-24589509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs145497446 | chr11:24589529-24589530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573527333 | chr11:24589535-24589536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs542328194 | chr11:24589561-24589562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs558985844 | chr11:24589598-24589599 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:24587200-24587400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 2 | chr11:24589200-24589600 | Enhancers | HUVEC | blood vessel |
