Variant report
| Variant | esv3397556 |
|---|---|
| Chromosome Location | chr10:97476319-97476577 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs186496026 | chr10:97476342-97476343 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555860793 | chr10:97476362-97476363 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73329287 | chr10:97476401-97476402 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs140350116 | chr10:97476408-97476409 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538257090 | chr10:97476447-97476448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558120417 | chr10:97476462-97476463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs542613594 | chr10:97476464-97476465 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139333402 | chr10:97476466-97476467 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Lung cancer | 18438408 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Submicroscopic aberration syndrome | 21292638 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21364760 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 24453001 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:97458800-97481400 | Weak transcription | Primary B cells from cord blood | blood |
| 2 | chr10:97471800-97480000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr10:97472600-97476400 | Weak transcription | Placenta | Placenta |
| 4 | chr10:97475600-97477000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 5 | chr10:97475600-97484400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 6 | chr10:97476200-97476800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 7 | chr10:97476200-97476800 | Enhancers | Esophagus | oesophagus |
| 8 | chr10:97476200-97477800 | Enhancers | Monocytes-CD14+_RO01746 | blood |
| 9 | chr10:97476400-97477000 | Enhancers | Placenta | Placenta |
