Variant report
| Variant | esv3370104 |
|---|---|
| Chromosome Location | chr11:62993237-62993516 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:62992812..62995599-chr11:63006882..63009821,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs375648522 | chr11:62993240-62993241 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs7932800 | chr11:62993243-62993244 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs192027842 | chr11:62993248-62993249 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs183907558 | chr11:62993271-62993272 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113906882 | chr11:62993274-62993275 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560448742 | chr11:62993286-62993287 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186079657 | chr11:62993288-62993289 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542183375 | chr11:62993306-62993307 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs560096097 | chr11:62993336-62993337 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs561946019 | chr11:62993337-62993338 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs530755465 | chr11:62993359-62993360 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs55889421 | chr11:62993367-62993368 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs564044417 | chr11:62993421-62993422 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs56014813 | chr11:62993438-62993439 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs546282874 | chr11:62993494-62993495 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs566177668 | chr11:62993500-62993501 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs562269577 | chr11:62993501-62993502 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Acute myeloid leukemia | 20729466 | 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 |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Chordoma | 21602918 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| ovarian endometriomas | 16273235 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Spinal muscular atrophy | 17160897 | CNVD |
| Retinitis pigmentosa | 17160897 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:62993000-62994200 | Enhancers | HepG2 | liver |
| 2 | chr11:62993000-62996800 | Strong transcription | Liver | Liver |
