Variant report
| Variant | esv3488694 |
|---|---|
| Chromosome Location | chr11:33537580-33538106 |
| 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 | rs565935267 | chr11:33537653-33537654 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535670696 | chr11:33537720-33537721 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs534940096 | chr11:33537760-33537761 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554716149 | chr11:33537761-33537762 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111911938 | chr11:33537849-33537850 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112456122 | chr11:33537852-33537853 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373309362 | chr11:33537883-33537884 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs367543385 | chr11:33537995-33537996 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147907670 | chr11:33538036-33538037 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs554421440 | chr11:33538076-33538077 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12803487 | chr11:33538082-33538083 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs116229124 | chr11:33538097-33538098 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Aniridia syndrome | 21572526 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Denys-drash syndrome | 21085971 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| WAGR syndrome | 16773131 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Aniridia syndrome | 17204608 | CNVD |
| Mental retardation | 17204608 | CNVD |
| WAGR syndrome | 19617690 | CNVD |
| genitourinary abnormalities | 17204608 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 17160897 | CNVD |
| Cancer | 21183584 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| WAGR syndrome | 22470819 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Denys-drash syndrome | 19566914 | CNVD |
| Familial wilms tumor | 19566914 | CNVD |
| Frasier syndrome | 19566914 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| WAGR syndrome | 20603712 | CNVD |
| Autism | 17322880 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:33531600-33538800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 2 | chr11:33535200-33537600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 3 | chr11:33535200-33538800 | Enhancers | Fetal Brain Male | brain |
| 4 | chr11:33536600-33537600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 5 | chr11:33536600-33537600 | Enhancers | GM12878-XiMat | blood |
| 6 | chr11:33536800-33537600 | Enhancers | Brain Angular Gyrus | brain |
| 7 | chr11:33536800-33537600 | Enhancers | Osteobl | bone |
| 8 | chr11:33537000-33537600 | Enhancers | HSMMtube | muscle |
| 9 | chr11:33537200-33537600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 10 | chr11:33537400-33538600 | Weak transcription | Fetal Brain Female | brain |
| 11 | chr11:33537600-33539000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 12 | chr11:33537600-33544400 | Weak transcription | GM12878-XiMat | blood |
