Variant report
| Variant | nsv293440 |
|---|---|
| Chromosome Location | chr4:74312305-74312368 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:193)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:74177054..74177984-chr4:74311787..74312670,5 | MCF-7 | breast: | |
| 2 | chr4:74311780..74312697-chr4:74519035..74519771,3 | MCF-7 | breast: | |
| 3 | chr4:74176660..74177830-chr4:74312110..74312752,4 | MCF-7 | breast: | |
| 4 | chr4:74206756..74207673-chr4:74311795..74312505,4 | K562 | blood: | |
| 5 | chr4:74206401..74207863-chr4:74311210..74313292,12 | MCF-7 | breast: | |
| 6 | chr4:74300190..74300741-chr4:74311556..74312309,2 | MCF-7 | breast: | |
| 7 | chr4:74207042..74207824-chr4:74311798..74312657,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| AFP | TF binding region |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs536392979 | chr4:74312312-74312313 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs11941100 | chr4:74312340-74312341 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs573365309 | chr4:74312343-74312344 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs372296626 | chr4:74312360-74312361 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs376832215 | chr4:74312361-74312362 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs369479119 | chr4:74312362-74312363 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs28693791 | chr4:74312368-74312369 | Weak transcription Enhancers Genic enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Parkinson disease | 18923514 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Osteoporosis | 18992858 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Cancer | 22429812 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:74303400-74317200 | Weak transcription | Fetal Intestine Large | intestine |
| 2 | chr4:74303600-74315800 | Weak transcription | Fetal Intestine Small | intestine |
| 3 | chr4:74308400-74313400 | Weak transcription | NH-A | brain |
| 4 | chr4:74308600-74313000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 5 | chr4:74309600-74315400 | Genic enhancers | HepG2 | liver |
| 6 | chr4:74310000-74315200 | Enhancers | Liver | Liver |
| 7 | chr4:74311000-74316000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 8 | chr4:74311200-74313400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr4:74311400-74316400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 10 | chr4:74311600-74314400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 11 | chr4:74312200-74313200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 12 | chr4:74312200-74313200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 13 | chr4:74312200-74313200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 14 | chr4:74312200-74314800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
