Variant report
| Variant | esv3352544 |
|---|---|
| Chromosome Location | chr10:16339161-16339348 |
| 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 | chr10:16337821..16339620-chr10:16340390..16342255,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 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 | rs12098540 | chr10:16339175-16339176 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs117853362 | chr10:16339182-16339183 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs146043941 | chr10:16339187-16339188 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375143379 | chr10:16339188-16339189 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527335389 | chr10:16339191-16339192 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs71374672 | chr10:16339204-16339205 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530222913 | chr10:16339205-16339206 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546077519 | chr10:16339206-16339207 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373868150 | chr10:16339210-16339211 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs74534201 | chr10:16339244-16339245 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs190351561 | chr10:16339327-16339328 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:46)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 22032731 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| DiGeorge-Velo cardiofacial | 22470819 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| Digeorge syndrome | 17576883 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Velocardiofacial syndrome | 17576883 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:16338800-16339200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr10:16338800-16339400 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
