Variant report
| Variant | esv3364755 |
|---|---|
| Chromosome Location | chr3:50824664-50824991 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CISH-3 | chr3:50824105-50824701 | NONHSAT089856 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs28650958 | chr3:50824705-50824706 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs145456259 | chr3:50824725-50824726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs548999391 | chr3:50824732-50824733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs28651223 | chr3:50824735-50824736 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs147703653 | chr3:50824737-50824738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs554151260 | chr3:50824755-50824756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs575944468 | chr3:50824912-50824913 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs536638700 | chr3:50824915-50824916 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558658083 | chr3:50824964-50824965 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:86)
| Disease | PMID | Source |
|---|---|---|
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 20688739 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Cancer | 20164919 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:50819400-50825200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 2 | chr3:50819400-50825600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr3:50821000-50825600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr3:50821200-50827400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr3:50823400-50825800 | Weak transcription | Brain Anterior Caudate | brain |
| 6 | chr3:50824400-50824800 | Weak transcription | Brain Cingulate Gyrus | brain |
| 7 | chr3:50824400-50825800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 8 | chr3:50824400-50826000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 9 | chr3:50824400-50826600 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 10 | chr3:50824400-50829600 | Weak transcription | Brain Angular Gyrus | brain |
| 11 | chr3:50824600-50826600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 12 | chr3:50824800-50826200 | Enhancers | Brain Cingulate Gyrus | brain |
