Variant report
| Variant | esv3504173 |
|---|---|
| Chromosome Location | chr10:55018673-55019008 |
| 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 | chr10:55015124..55017354-chr10:55018929..55021209,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs147593758 | chr10:55018683-55018684 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs73356207 | chr10:55018688-55018689 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs2384195 | chr10:55018731-55018732 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs376946236 | chr10:55018740-55018741 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs146261211 | chr10:55018741-55018742 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs10824962 | chr10:55018750-55018751 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs75281891 | chr10:55018770-55018771 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370524453 | chr10:55018775-55018776 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs562974325 | chr10:55018791-55018792 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528929960 | chr10:55018808-55018809 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs372149879 | chr10:55018814-55018815 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs367578793 | chr10:55018839-55018840 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201844044 | chr10:55018862-55018863 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558348916 | chr10:55018908-55018909 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs147838765 | chr10:55018915-55018916 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs374701471 | chr10:55018942-55018943 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs559461323 | chr10:55018962-55018963 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs12243146 | chr10:55018997-55018998 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs12243149 | chr10:55019007-55019008 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Obesity | 21956041 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Intellectual disability | 21948486 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Autism | 20841430 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Schizophrenia | 19329560 | CNVD |
| Heart failure | 18772530 | CNVD |
| Heart failure | 18854381 | CNVD |
| Hyperglycemia | 19060297 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autism | 20858243 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:55018200-55019400 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
