Variant report
| Variant | esv3410684 |
|---|---|
| Chromosome Location | chr11:57642864-57643069 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs75317448 | chr11:57642884-57642885 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs5792069 | chr11:57642885-57642886 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74895782 | chr11:57642886-57642887 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs530597215 | chr11:57642906-57642907 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs1704778 | chr11:57642923-57642924 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs117596175 | chr11:57642931-57642932 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs143409371 | chr11:57642932-57642933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs565986382 | chr11:57642975-57642976 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs553188039 | chr11:57642996-57642997 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568025521 | chr11:57643020-57643021 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Angio-oedema | 21790735 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:57641200-57646200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 2 | chr11:57642600-57643400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr11:57642600-57644200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
