Variant report
| Variant | esv17649 |
|---|---|
| Chromosome Location | chr11:49085333-49094076 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- 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 | CTCF | chr11:49092621-49092790 | A549 | lung: | n/a | chr11:49092683-49092701 |
| 2 | CTCF | chr11:49089926-49089944 | Kidney_OC | kidney: | n/a | n/a |
| 3 | CTCF | chr11:49091372-49091416 | GM20000 | blood: | n/a | n/a |
| 4 | CTCF | chr11:49085811-49085890 | Spleen_OC | spleen: | n/a | n/a |
| 5 | CTCF | chr11:49093313-49093371 | GM13977 | blood: | n/a | n/a |
| 6 | CTCF | chr11:49092004-49092046 | GM20000 | blood: | n/a | n/a |
| 7 | CTCF | chr11:49087338-49087430 | Lung_OC | lung: | n/a | n/a |
| 8 | CTCF | chr11:49092679-49092714 | Medullo | brain: | n/a | chr11:49092683-49092701 |
| 9 | STAT3 | chr11:49085764-49085948 | MCF10A-Er-Src | breast: | n/a | n/a |
| 10 | ZKSCAN1 | chr11:49088272-49088300 | Hela-S3 | cervix: | n/a | n/a |
| 11 | ZNF384 | chr11:49086385-49086422 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-TRIM64C-1 | chr11:49092304-49092552 | NONHSAT021307 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| TRIM64C | TF binding region |
| ENSG00000254801 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs143836833 | chr11:49092316-49092317 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs563031294 | chr11:49092334-49092335 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs189104430 | chr11:49092410-49092411 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs542483209 | chr11:49092411-49092412 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs561807987 | chr11:49092426-49092427 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs527424551 | chr11:49092430-49092431 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs547343325 | chr11:49092499-49092500 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs570370107 | chr11:49092509-49092510 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs191250504 | chr11:49092626-49092627 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs569658719 | chr11:49092666-49092667 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs148170587 | chr11:49092677-49092678 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs555174086 | chr11:49092775-49092776 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs562432910 | chr11:49093319-49093320 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
