Variant report
| Variant | esv3437864 |
|---|---|
| Chromosome Location | chr11:25005626-25006774 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs150581786 | chr11:25005641-25005642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs149266512 | chr11:25005701-25005702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369810184 | chr11:25005702-25005703 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs75050403 | chr11:25005751-25005752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs79328857 | chr11:25005752-25005753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs536084500 | chr11:25005764-25005765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs555881819 | chr11:25005775-25005776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111631400 | chr11:25005793-25005794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs139471913 | chr11:25005794-25005795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs1348737 | chr11:25005812-25005813 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs539605608 | chr11:25005815-25005816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183391465 | chr11:25005859-25005860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372503037 | chr11:25005867-25005868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558368492 | chr11:25005884-25005885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572235595 | chr11:25005944-25005945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs577968804 | chr11:25005946-25005947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs377004040 | chr11:25005986-25005987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs537347198 | chr11:25005991-25005992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550474319 | chr11:25006604-25006605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs144497737 | chr11:25006630-25006631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs529629476 | chr11:25006672-25006673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:25004400-25006000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr11:25004400-25006000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr11:25004600-25006000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr11:25004600-25006000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr11:25006400-25007200 | Enhancers | Fetal Kidney | kidney |
