Variant report
| Variant | esv3404953 |
|---|---|
| Chromosome Location | chr10:83453122-83454670 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538834334 | chr10:83454219-83454220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572198000 | chr10:83454233-83454234 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73309357 | chr10:83454282-83454283 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs544204728 | chr10:83454315-83454316 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs541163096 | chr10:83454322-83454323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs373366377 | chr10:83454323-83454324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147661360 | chr10:83454334-83454335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78580331 | chr10:83454339-83454340 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs78976406 | chr10:83454420-83454421 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192061295 | chr10:83454463-83454464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs546950273 | chr10:83454549-83454550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532383009 | chr10:83454610-83454611 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| 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 |
| Thoracic aortic aneurysm | 21092924 | 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 |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Submicroscopic aberration syndrome | 21292638 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| Polyposis syndrome | 18645599 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Glioblastoma multiforme | 17369134 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:83454200-83454600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr10:83454200-83454800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr10:83454200-83454800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr10:83454400-83454600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr10:83454400-83454800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr10:83454600-83454800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 7 | chr10:83454600-83456400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
