Variant report
| Variant | nsv966235 |
|---|---|
| Chromosome Location | chr4:171732721-171735864 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr4:171735400-171735550 | GM06990 | blood: | n/a | n/a |
| 2 | MAFF | chr4:171734938-171735138 | HepG2 | liver: | n/a | chr4:171735090-171735108 |
| 3 | MAFK | chr4:171734947-171735233 | HepG2 | liver: | n/a | chr4:171735091-171735106 chr4:171735095-171735106 chr4:171735091-171735107 chr4:171735094-171735108 chr4:171735096-171735107 chr4:171735096-171735107 |
| 4 | MAFK | chr4:171734954-171735229 | HepG2 | liver: | n/a | chr4:171735091-171735106 chr4:171735095-171735106 chr4:171735091-171735107 chr4:171735094-171735108 chr4:171735096-171735107 chr4:171735096-171735107 |
| 5 | POLR2A | chr4:171733553-171733753 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:171722091..171723639-chr4:171731576..171734168,2 | MCF-7 | breast: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AADAT-11 | chr4:171735490-171735699 | NONHSAT099191 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000249943 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538161299 | chr4:171735527-171735528 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs565154297 | chr4:171735563-171735564 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs189283474 | chr4:171735567-171735568 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs557743947 | chr4:171735571-171735572 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs540809734 | chr4:171735588-171735589 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs17056210 | chr4:171735611-171735612 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs529733892 | chr4:171735665-171735666 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs146758517 | chr4:171735681-171735682 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| 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 |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 17133270 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21633010 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20581869 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Developmental delay | 22127048 | CNVD |
| Schizophrenia | 23813976 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
