Variant report
| Variant | esv3314718 |
|---|---|
| Chromosome Location | chr10:43739671-43740168 |
| 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 | chr10:43729621..43731654-chr10:43739921..43741494,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:24 , 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 | rs369477160 | chr10:43739690-43739691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs191903327 | chr10:43739746-43739747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs71505668 | chr10:43739797-43739798 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs532040516 | chr10:43739798-43739799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2505529 | chr10:43739817-43739818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569070948 | chr10:43739830-43739831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7358231 | chr10:43739844-43739845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201835492 | chr10:43739851-43739852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112818174 | chr10:43739853-43739854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs115256112 | chr10:43739854-43739855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs79816565 | chr10:43739862-43739863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs60277953 | chr10:43739863-43739864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs111395966 | chr10:43739876-43739877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566376001 | chr10:43739907-43739908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs185926878 | chr10:43739911-43739912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs150207641 | chr10:43739920-43739921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138911649 | chr10:43739921-43739922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs552198376 | chr10:43739944-43739945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs573529191 | chr10:43739950-43739951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs7093409 | chr10:43740067-43740068 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 21 | rs575213355 | chr10:43740075-43740076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs542592022 | chr10:43740082-43740083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs573296993 | chr10:43740096-43740097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs555450097 | chr10:43740116-43740117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| Lung cancer | 18438408 | 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 |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Obesity | 21956041 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:43739200-43744600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
