Variant report
| Variant | esv3387916 |
|---|---|
| Chromosome Location | chr12:62534325-62534606 |
| 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 | chr12:62527744..62530302-chr12:62532927..62534657,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000198673 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:12 , 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 | rs111722856 | chr12:62534360-62534361 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs538419851 | chr12:62534370-62534371 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs192908465 | chr12:62534384-62534385 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs149771641 | chr12:62534402-62534403 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs10784282 | chr12:62534426-62534427 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs185453604 | chr12:62534427-62534428 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs574057310 | chr12:62534517-62534518 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs17125939 | chr12:62534556-62534557 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs557205697 | chr12:62534558-62534559 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs144696272 | chr12:62534566-62534567 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs78359223 | chr12:62534581-62534582 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs559877507 | chr12:62534599-62534600 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Glaucoma | 21447600 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Developmental delay | 21267005 | CNVD |
| 12q14 microdeletion syndrome | 21267005 | CNVD |
| Developmental delay | 19277063 | CNVD |
| Dwarfism | 19277063 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Glioblastoma multiforme | 20080666 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Man infertility | 21397064 | CNVD |
| Mental retardation | 17220210 | CNVD |
| Osteopoikilosis | 17220210 | CNVD |
| short stature | 17220210 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Melanoma | 20877625 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:62533600-62535800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 2 | chr12:62533800-62535200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 3 | chr12:62534000-62534800 | Enhancers | Ovary | ovary |
| 4 | chr12:62534000-62535800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
