Variant report
| Variant | nsv528414 |
|---|---|
| Chromosome Location | chr11:49132307-49135301 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | IRF1 | chr11:49135164-49135242 | K562 | blood: | n/a | n/a |
| 2 | POLR2A | chr11:49133713-49133722 | GM12878 | blood: | n/a | n/a |
| 3 | POLR2A | chr11:49134331-49134433 | GM12878 | blood: | n/a | n/a |
| 4 | POLR2A | chr11:49133784-49133829 | GM12878 | blood: | n/a | n/a |
| 5 | STAT3 | chr11:49133253-49133598 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AC084851.1-3 | chr11:49132308-49132772 | NONHSAT021309 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000255338 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73473106 | chr11:49132335-49132336 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs550206309 | chr11:49132336-49132337 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs564886834 | chr11:49132340-49132341 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs575196199 | chr11:49132346-49132347 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs562350293 | chr11:49132379-49132380 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs187983727 | chr11:49132384-49132385 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs561044490 | chr11:49132432-49132433 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs180852226 | chr11:49132460-49132461 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs374866598 | chr11:49132467-49132468 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs547968065 | chr11:49132580-49132581 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs569400580 | chr11:49132583-49132584 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs528556951 | chr11:49132610-49132611 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 13 | rs531589866 | chr11:49132615-49132616 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 14 | rs551508295 | chr11:49132637-49132638 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 15 | rs571594283 | chr11:49132638-49132639 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 16 | rs369607369 | chr11:49132673-49132674 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 17 | rs537083059 | chr11:49132734-49132735 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 18 | rs548527434 | chr11:49132748-49132749 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:50)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22581003 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 17426248 | CNVD |
| Melanoma | 20877625 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
