Variant report
| Variant | esv3342875 |
|---|---|
| Chromosome Location | chr11:58239860-58240149 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2515339 | chr11:58239868-58239869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs567379849 | chr11:58239884-58239885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs537896365 | chr11:58239892-58239893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556244743 | chr11:58239912-58239913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12786074 | chr11:58239930-58239931 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs200001818 | chr11:58239935-58239936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34825749 | chr11:58239942-58239943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562170853 | chr11:58239951-58239952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538948810 | chr11:58239952-58239953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs2510870 | chr11:58239958-58239959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201528810 | chr11:58239968-58239969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs150610389 | chr11:58239975-58239976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201555649 | chr11:58239977-58239978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs61905203 | chr11:58239978-58239979 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558216210 | chr11:58239983-58239984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs547795335 | chr11:58239991-58239992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs71486418 | chr11:58240133-58240134 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495309 | CNVD |
| Autism | 20808228 | CNVD |
| Melanoma | 17363583 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:58239800-58243600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
