Variant report
| Variant | nsv290882 |
|---|---|
| Chromosome Location | chr4:616284-616296 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EGR1 | chr4:616278-616796 | GM12878 | blood: | n/a | n/a |
| 2 | TCF12 | chr4:616156-616492 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 3 | TCF3 | chr4:616277-616918 | GM12878 | blood: | n/a | n/a |
| 4 | ZEB1 | chr4:616102-617173 | HepG2 | liver: | n/a | chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723 |
| 5 | ZEB1 | chr4:616163-616973 | GM12878 | blood: | n/a | chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723 |
| 6 | ZEB1 | chr4:616148-617280 | GM12878 | blood: | n/a | chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723 |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PDE6B | TF binding region |
| ENSG00000169020 | chromatin interactions |
| ENSG00000215375 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs141406900 | chr4:616285-616286 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Myelofibrosis | 22110671 | CNVD |
| Wolf-Hirschhorn syndrome | 21549014 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Wolf-Hirschhorn syndrome | 22283845 | CNVD |
| Wolf-Hirschhorn syndrome | 16773131 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Wolf-Hirschhorn syndrome | 22470819 | CNVD |
| Wolf-Hirschhorn syndrome | 18541967 | CNVD |
| sporadic birth defects | 19047251 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Retinitis pigmentosa | 18421352 | CNVD |
| Wolf-Hirschhorn syndrome | 19259404 | CNVD |
| Bladder cancer | 19242612 | CNVD |
| Breast cancer | 19242612 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 19242612 | CNVD |
| abnormal development | 18461090 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Melanoma | 20688739 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 17142309 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Type 2 diabetes | 21754918 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:615600-617600 | Enhancers | Brain Hippocampus Middle | brain |
| 2 | chr4:615800-618200 | Enhancers | Brain Substantia Nigra | brain |
| 3 | chr4:616000-617400 | Enhancers | Brain Cingulate Gyrus | brain |
| 4 | chr4:616200-617000 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
| 5 | chr4:616200-617400 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 6 | chr4:616200-618200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 7 | chr4:616200-618400 | Enhancers | Brain Angular Gyrus | brain |
