Variant report
| Variant | esv1832578 |
|---|---|
| Chromosome Location | chr15:82701763-82719145 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:28)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:9)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:28 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BATF | chr15:82717647-82717871 | GM12878 | blood: | n/a | n/a |
| 2 | CBX3 | chr15:82703867-82704143 | K562 | blood: | n/a | n/a |
| 3 | CTCF | chr15:82704287-82704343 | GM13976 | blood: | n/a | n/a |
| 4 | CTCF | chr15:82704016-82704040 | GM13976 | blood: | n/a | n/a |
| 5 | CTCF | chr15:82702766-82702824 | GM20000 | blood: | n/a | n/a |
| 6 | CTCF | chr15:82711295-82711378 | GM20000 | blood: | n/a | n/a |
| 7 | CTCF | chr15:82701985-82702018 | GM20000 | blood: | n/a | n/a |
| 8 | FOSL2 | chr15:82713078-82713463 | HepG2 | liver: | n/a | chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713328-82713339 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338 |
| 9 | FOSL2 | chr15:82707069-82707276 | HepG2 | liver: | n/a | n/a |
| 10 | FOSL2 | chr15:82713080-82713574 | HepG2 | liver: | n/a | chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713328-82713339 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338 |
| 11 | FOXA1 | chr15:82706900-82707492 | HepG2 | liver: | n/a | n/a |
| 12 | FOXA2 | chr15:82706959-82707499 | A549 | lung: | n/a | n/a |
| 13 | GABPA | chr15:82713124-82713506 | Hela-S3 | cervix: | n/a | n/a |
| 14 | GATA2 | chr15:82713079-82713496 | K562 | blood: | n/a | chr15:82713322-82713332 |
| 15 | GATA2 | chr15:82703845-82704206 | K562 | blood: | n/a | n/a |
| 16 | HEY1 | chr15:82712750-82713054 | K562 | blood: | n/a | n/a |
| 17 | HEY1 | chr15:82706870-82707208 | HepG2 | liver: | n/a | n/a |
| 18 | JUND | chr15:82713148-82713483 | HepG2 | liver: | n/a | chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338 |
| 19 | JUND | chr15:82713202-82713430 | HepG2 | liver: | n/a | chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338 |
| 20 | JUND | chr15:82713175-82713494 | A549 | lung: | n/a | chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338 |
| 21 | POLR2A | chr15:82712788-82713541 | Hela-S3 | cervix: | n/a | n/a |
| 22 | POLR2A | chr15:82712796-82713492 | Hela-S3 | cervix: | n/a | n/a |
| 23 | REST | chr15:82716933-82717087 | PFSK-1 | brain: | n/a | chr15:82716996-82717016 chr15:82717006-82717014 chr15:82716996-82717016 chr15:82717002-82717016 |
| 24 | RXRA | chr15:82706988-82707317 | HepG2 | liver: | n/a | n/a |
| 25 | SP1 | chr15:82706856-82707446 | HepG2 | liver: | n/a | n/a |
| 26 | SPI1 | chr15:82702673-82702884 | K562 | blood: | n/a | n/a |
| 27 | SPI1 | chr15:82718471-82718599 | K562 | blood: | n/a | n/a |
| 28 | TAF1 | chr15:82713049-82713414 | Hela-S3 | cervix: | n/a | n/a |
| No data |
| No data |
(count:9 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-GOLGA6L9-2 | chr15:82711413-82711452 | NONHSAT047780 |
| 2 | lnc-GOLGA6L9-2 | chr15:82712185-82712277 | NONHSAT047779 |
| 3 | lnc-GOLGA6L9-2 | chr15:82710841-82710997 | NONHSAT047780 |
| 4 | lnc-GOLGA6L9-2 | chr15:82711573-82711596 | NONHSAT047780 |
| 5 | lnc-GOLGA6L9-2 | chr15:82707732-82707880 | NONHSAT047780 |
| 6 | lnc-GOLGA6L9-2 | chr15:82706886-82707009 | NONHSAT140249 |
| 7 | lnc-GOLGA6L9-2 | chr15:82707733-82708217 | NONHSAT140249 |
| 8 | lnc-GOLGA6L9-2 | chr15:82711413-82711452 | NONHSAT047779 |
| 9 | lnc-GOLGA6L9-2 | chr15:82704867-82704929 | NONHSAT047779 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000259206 | TF binding region |
| GOLGA6L9 | TF binding region |
| UBE2Q2P2 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs62011124 | chr15:82702765-82702766 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs62011130 | chr15:82707890-82707891 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs62011133 | chr15:82710972-82710973 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Cancer | 16751803 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Autism | 17322880 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Autism | 21480499 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Congenital diaphragmatic hernia | 21341218 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Congenital diaphragmatic hernia | 20921022 | CNVD |
| abnormal development | 18461090 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| renal disease | 17924346 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
