Variant report
| Variant | nsv976999 |
|---|---|
| Chromosome Location | chr15:82962052-82968802 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:21)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:21 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BATF | chr15:82962463-82962706 | GM12878 | blood: | n/a | n/a |
| 2 | BCL11A | chr15:82964566-82964831 | GM12878 | blood: | n/a | chr15:82964693-82964702 |
| 3 | CTCF | chr15:82965138-82965240 | Spleen_OC | spleen: | n/a | n/a |
| 4 | EBF1 | chr15:82962784-82962981 | GM12878 | blood: | n/a | n/a |
| 5 | EBF1 | chr15:82965239-82965494 | GM12878 | blood: | n/a | n/a |
| 6 | EP300 | chr15:82966491-82966812 | GM12878 | blood: | n/a | n/a |
| 7 | GABPA | chr15:82966442-82966750 | Hela-S3 | cervix: | n/a | n/a |
| 8 | GATA2 | chr15:82963723-82963976 | K562 | blood: | n/a | n/a |
| 9 | GATA2 | chr15:82961981-82962393 | K562 | blood: | n/a | n/a |
| 10 | GATA2 | chr15:82968281-82968712 | K562 | blood: | n/a | n/a |
| 11 | IRF4 | chr15:82966412-82966719 | GM12878 | blood: | n/a | n/a |
| 12 | IRF4 | chr15:82966409-82966743 | GM12878 | blood: | n/a | n/a |
| 13 | POLR2A | chr15:82966525-82966698 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 14 | POU2F2 | chr15:82962859-82962978 | GM12878 | blood: | n/a | n/a |
| 15 | SIN3AK20 | chr15:82968295-82968459 | HepG2 | liver: | n/a | n/a |
| 16 | SIX5 | chr15:82967760-82968009 | GM12878 | blood: | n/a | n/a |
| 17 | SP1 | chr15:82967723-82968067 | GM12878 | blood: | n/a | n/a |
| 18 | SP1 | chr15:82961380-82962183 | GM12878 | blood: | n/a | chr15:82962132-82962141 chr15:82962128-82962142 chr15:82962132-82962142 |
| 19 | SPI1 | chr15:82961588-82962070 | GM12878 | blood: | n/a | n/a |
| 20 | SPI1 | chr15:82961591-82962079 | GM12891 | blood: | n/a | n/a |
| 21 | SPI1 | chr15:82961485-82962220 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RN7SL256P | TF binding region |
| ENSG00000259328 | TF binding region |
| ENSG00000221177 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs468702 | chr15:82965139-82965140 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs112751417 | chr15:82965301-82965302 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 |
| Pancreatic cancer | 17952125 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
