Variant report
| Variant | nsv975912 |
|---|---|
| Chromosome Location | chr11:49544450-49550022 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534595044 | chr11:49545007-49545008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs34684910 | chr11:49545056-49545057 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs577486211 | chr11:49545165-49545166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:45)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22581003 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:49545000-49545200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
