Variant report
| Variant | nsv611303 |
|---|---|
| Chromosome Location | chr8:47448838-47449513 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4449805 | chr8:47448838-47448839 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs535974998 | chr8:47448839-47448840 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs555852625 | chr8:47448861-47448862 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs576057774 | chr8:47448882-47448883 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181043550 | chr8:47448888-47448889 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558486910 | chr8:47448959-47448960 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7820658 | chr8:47448987-47448988 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs540924546 | chr8:47449021-47449022 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185567878 | chr8:47449028-47449029 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529529149 | chr8:47449032-47449033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543216380 | chr8:47449047-47449048 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs189585171 | chr8:47449113-47449114 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531793839 | chr8:47449123-47449124 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551527608 | chr8:47449138-47449139 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs527961877 | chr8:47449143-47449144 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs182994436 | chr8:47449172-47449173 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs527606903 | chr8:47449184-47449185 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs541737030 | chr8:47449191-47449192 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs557467272 | chr8:47449205-47449206 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs567185541 | chr8:47449235-47449236 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs547147976 | chr8:47449242-47449243 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs113002469 | chr8:47449243-47449244 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs552414118 | chr8:47449262-47449263 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs536061031 | chr8:47449348-47449349 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs112922238 | chr8:47449368-47449369 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs188689507 | chr8:47449477-47449478 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs7845561 | chr8:47449513-47449514 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 | chr8:47441200-47454400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
