Variant report
| Variant | esv3432513 |
|---|---|
| Chromosome Location | chr11:100474427-100474742 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs569545041 | chr11:100474436-100474437 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs193123850 | chr11:100474439-100474440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs548905444 | chr11:100474555-100474556 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs565413039 | chr11:100474570-100474571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs185809320 | chr11:100474574-100474575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs565845064 | chr11:100474596-100474597 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534562768 | chr11:100474607-100474608 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557486849 | chr11:100474623-100474624 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs571284939 | chr11:100474629-100474630 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537175458 | chr11:100474641-100474642 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs74322863 | chr11:100474657-100474658 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs74767400 | chr11:100474688-100474689 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs10894989 | chr11:100474690-100474691 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs73578502 | chr11:100474713-100474714 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Breast cancer | 21958427 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Basal cell lymphoma | 16790693 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Melanoma | 20877625 | CNVD |
| Cancer | 20164919 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:100465400-100478800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr11:100473200-100474600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 3 | chr11:100473800-100475000 | Enhancers | Placenta | Placenta |
| 4 | chr11:100474000-100474600 | Enhancers | Adipose Nuclei | Adipose |
