Variant report
| Variant | nsv975113 |
|---|---|
| Chromosome Location | chr11:55663452-55674641 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr11:55667871-55668044 | A549 | lung: | n/a | n/a |
| 2 | E2F4 | chr11:55670354-55670565 | MCF10A-Er-Src | breast: | n/a | n/a |
| 3 | JUND | chr11:55669856-55670105 | HepG2 | liver: | n/a | chr11:55669982-55669991 |
| 4 | MAFF | chr11:55674198-55674253 | HepG2 | liver: | n/a | n/a |
| 5 | MAFK | chr11:55663885-55663900 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 6 | MAFK | chr11:55674141-55674336 | HepG2 | liver: | n/a | n/a |
| 7 | NFYA | chr11:55670214-55670410 | Hela-S3 | cervix: | n/a | n/a |
| 8 | POLR2A | chr11:55669753-55669859 | MCF10A-Er-Src | breast: | n/a | n/a |
| 9 | POLR2A | chr11:55669518-55669659 | MCF10A-Er-Src | breast: | n/a | n/a |
| 10 | RFX5 | chr11:55671355-55671395 | HepG2 | liver: | n/a | n/a |
| 11 | WRNIP1 | chr11:55671004-55671138 | GM12878 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:55599784..55601500-chr11:55669222..55671222,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| OR5W1P | TF binding region |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs17510876 | chr11:55674212-55674213 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs574749737 | chr11:55674227-55674228 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs573510479 | chr11:55674287-55674288 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs2175050 | chr11:55674324-55674325 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs143207430 | chr11:55674335-55674336 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:46)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
