Variant report
| Variant | esv3347083 |
|---|---|
| Chromosome Location | chr8:47353736-47354121 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561675177 | chr8:47353746-47353747 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs137967282 | chr8:47353756-47353757 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557963123 | chr8:47353763-47353764 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190936037 | chr8:47353786-47353787 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149465044 | chr8:47353865-47353866 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs184226023 | chr8:47353876-47353877 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs571292747 | chr8:47353902-47353903 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs377008367 | chr8:47353936-47353937 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535045352 | chr8:47353937-47353938 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548287045 | chr8:47353939-47353940 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568353790 | chr8:47353957-47353958 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs114995360 | chr8:47353967-47353968 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs536900683 | chr8:47353992-47353993 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs111984897 | chr8:47354013-47354014 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs111392512 | chr8:47354022-47354023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs372713476 | chr8:47354023-47354024 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs576594574 | chr8:47354030-47354031 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs369152171 | chr8:47354031-47354032 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs553063426 | chr8:47354035-47354036 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs72641026 | chr8:47354039-47354040 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs148177617 | chr8:47354049-47354050 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs561483218 | chr8:47354075-47354076 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Oral cancer | 21386901 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Developmental delay | 21373258 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| abnormal development | 18461090 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:47313000-47360600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
