Variant report
| Variant | nsv971996 |
|---|---|
| Chromosome Location | chr11:24912178-24913862 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr11:24913467-24913476 | GM20000 | blood: | n/a | n/a |
| 2 | CTCF | chr11:24913592-24913629 | GM10248 | blood: | n/a | n/a |
| 3 | CTCF | chr11:24913569-24913627 | Fibrobl | skin: | n/a | n/a |
| 4 | CTCF | chr11:24913535-24913599 | A549 | lung: | n/a | n/a |
| 5 | CTCF | chr11:24913602-24913652 | GM10266 | blood: | n/a | n/a |
| 6 | POLR2A | chr11:24913633-24913808 | GM12878 | blood: | n/a | n/a |
| 7 | POLR2A | chr11:24913389-24913630 | ProgFib | skin: | n/a | n/a |
| 8 | POLR2A | chr11:24912323-24912385 | MCF10A-Er-Src | breast: | n/a | n/a |
| 9 | POLR2A | chr11:24913454-24913631 | A549 | lung: | n/a | n/a |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ANO3-5 | chr11:24913775-24914067 | NONHSAT018440 |
| 2 | lnc-ANO3-5 | chr11:24913311-24913474 | NONHSAT018440 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| LUZP2 | 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 | rs544089010 | chr11:24912339-24912340 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs145895197 | chr11:24912341-24912342 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs61892080 | chr11:24913369-24913370 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs554697131 | chr11:24913400-24913401 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs536496369 | chr11:24913411-24913412 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs141933902 | chr11:24913459-24913460 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs76333076 | chr11:24913471-24913472 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs544165352 | chr11:24913805-24913806 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
