Variant report
| Variant | nsv9248 |
|---|---|
| Chromosome Location | chr15:43862194-43864818 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPD | chr15:43863161-43863508 | K562 | blood: | n/a | n/a |
| 2 | CTCF | chr15:43862177-43862207 | GM10248 | blood: | n/a | n/a |
| 3 | CTCF | chr15:43864008-43864069 | HepG2 | liver: | n/a | n/a |
| 4 | CTCF | chr15:43863698-43863730 | GM13976 | blood: | n/a | n/a |
| 5 | GATA2 | chr15:43863191-43863582 | K562 | blood: | n/a | chr15:43863359-43863376 chr15:43863374-43863381 chr15:43863358-43863365 chr15:43863354-43863370 chr15:43863373-43863383 chr15:43863358-43863365 chr15:43863372-43863385 chr15:43863351-43863372 chr15:43863374-43863383 chr15:43863358-43863365 chr15:43863367-43863388 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PPIP5K1 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs139033756 | chr15:43862694-43862695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141431474 | chr15:43862784-43862785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs150477987 | chr15:43862964-43862965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138334859 | chr15:43863053-43863054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149606809 | chr15:43863082-43863083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs146123549 | chr15:43863265-43863266 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs139843849 | chr15:43863658-43863659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141191158 | chr15:43864469-43864470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201598736 | chr15:43864550-43864551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540215858 | chr15:43864799-43864800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Testicular germ cell tumor | 18059402 | 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 |
| Colorectal cancer | 16774939 | 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 |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cancer | 21129771 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Breast cancer | 22032731 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Cancer | 16751803 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:43851800-43889600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
