Variant report
| Variant | esv3346101 |
|---|---|
| Chromosome Location | chr11:105819810-105820164 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6591143 | chr11:105819854-105819855 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs557157224 | chr11:105819862-105819863 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73550974 | chr11:105819870-105819871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs566859792 | chr11:105819958-105819959 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527655588 | chr11:105819965-105819966 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs549470834 | chr11:105820022-105820023 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs111858372 | chr11:105820049-105820050 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs548814 | chr11:105820101-105820102 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs190594901 | chr11:105820102-105820103 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12099201 | chr11:105820109-105820110 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs533454345 | chr11:105820152-105820153 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs111286478 | chr11:105820154-105820155 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| 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 |
| 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 |
| 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 |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Chronic lymphocytic leukemia | 17805327 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Obesity | 19966786 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:105818800-105826600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 2 | chr11:105819400-105820600 | Enhancers | Hela-S3 | cervix |
