Variant report
| Variant | esv2414076 |
|---|---|
| Chromosome Location | chr8:85199402-85199833 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs80281272 | chr8:85199408-85199409 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs146668052 | chr8:85199420-85199421 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546146268 | chr8:85199555-85199556 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs116856323 | chr8:85199560-85199561 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs532316042 | chr8:85199572-85199573 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200893813 | chr8:85199600-85199601 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201882914 | chr8:85199601-85199602 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs60903377 | chr8:85199603-85199604 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188399800 | chr8:85199616-85199617 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568991199 | chr8:85199628-85199629 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs554316521 | chr8:85199677-85199678 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs117248357 | chr8:85199686-85199687 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs554872933 | chr8:85199718-85199719 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs140215459 | chr8:85199719-85199720 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs528309682 | chr8:85199725-85199726 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181266747 | chr8:85199748-85199749 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs573271412 | chr8:85199788-85199789 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs537694344 | chr8:85199817-85199818 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:100)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | 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 |
| Cancer | 16751803 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Epilepsy | 20502679 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Autism | 20841430 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:85198000-85200600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr8:85198200-85200400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 3 | chr8:85198600-85200400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr8:85199000-85201000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr8:85199400-85201000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr8:85199400-85201600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr8:85199400-85205800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 8 | chr8:85199600-85200400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 9 | chr8:85199800-85201200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 10 | chr8:85199800-85201200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 11 | chr8:85199800-85204000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
