Variant report
| Variant | esv3428716 |
|---|---|
| Chromosome Location | chr10:117952114-117952345 |
| 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 | chr10:117950683..117953153-chr10:117956990..117959643,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563586268 | chr10:117952159-117952160 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530950017 | chr10:117952169-117952170 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs552260968 | chr10:117952208-117952209 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189868231 | chr10:117952258-117952259 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2694753 | chr10:117952295-117952296 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:70)
| 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 |
| 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 |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Cornelia de Lange syndrome | 24599119 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Chronic lymphocytic leukemia | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:117943600-117955000 | Weak transcription | Pancreas | Pancrea |
| 2 | chr10:117944200-117954800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr10:117945200-117954200 | Weak transcription | Fetal Muscle Leg | muscle |
| 4 | chr10:117949800-117954600 | Enhancers | Liver | Liver |
| 5 | chr10:117952000-117952600 | Enhancers | Fetal Stomach | stomach |
| 6 | chr10:117952200-117953400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr10:117952200-117953400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 8 | chr10:117952200-117954400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
