Variant report
| Variant | esv3522135 |
|---|---|
| Chromosome Location | chr10:23080970-23081286 |
| 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 | chr10:23080355..23083056-chr10:23096446..23098590,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 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 | rs145307897 | chr10:23080983-23080984 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538391138 | chr10:23081025-23081026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554875973 | chr10:23081049-23081050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12265739 | chr10:23081075-23081076 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs147632001 | chr10:23081172-23081173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140952047 | chr10:23081179-23081180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112759982 | chr10:23081193-23081194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546233210 | chr10:23081199-23081200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs556666785 | chr10:23081213-23081214 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs576462256 | chr10:23081229-23081230 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs544353723 | chr10:23081244-23081245 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540183712 | chr10:23081251-23081252 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs555124818 | chr10:23081261-23081262 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs187758124 | chr10:23081273-23081274 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs35076809 | chr10:23081276-23081277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:37)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Behavioral abnormalities | 21522184 | CNVD |
| Dysmorphic features | 21522184 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:23080600-23081200 | Enhancers | Brain Hippocampus Middle | brain |
| 2 | chr10:23080800-23081200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr10:23080800-23081200 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 4 | chr10:23081000-23081400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 5 | chr10:23081000-23081800 | Enhancers | NHEK | skin |
| 6 | chr10:23081200-23092000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 7 | chr10:23081200-23093000 | Weak transcription | Brain Hippocampus Middle | brain |
