Variant report
| Variant | esv1973909 |
|---|---|
| Chromosome Location | chr19:53506034-53506038 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:10)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | E2F6 | chr19:53505821-53506347 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 2 | FOXA1 | chr19:53505799-53506084 | HepG2 | liver: | n/a | n/a |
| 3 | FOXA1 | chr19:53505813-53506067 | HepG2 | liver: | n/a | n/a |
| 4 | FOXA1 | chr19:53505804-53506133 | HepG2 | liver: | n/a | n/a |
| 5 | FOXA1 | chr19:53505771-53506043 | HepG2 | liver: | n/a | n/a |
| 6 | MAX | chr19:53505913-53506198 | H1-hESC | embryonic stem cell: | n/a | chr19:53506113-53506123 |
| 7 | MAX | chr19:53506026-53506149 | NB4 | blood: | n/a | chr19:53506113-53506123 |
| 8 | MAX | chr19:53505988-53506294 | H1-hESC | embryonic stem cell: | n/a | chr19:53506113-53506123 |
| 9 | RFX5 | chr19:53505829-53506126 | Hela-S3 | cervix: | n/a | n/a |
| 10 | RFX5 | chr19:53505801-53506251 | IMR90 | lung: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000268282 | TF binding region |
| ENSG00000267943 | 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 | rs148420958 | chr19:53506034-53506035 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs111871048 | chr19:53506037-53506038 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| renal disease | 20603712 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18852474 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Melanoma | 17363583 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:53497600-53509800 | Weak transcription | Right Atrium | heart |
| 2 | chr19:53498000-53510400 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 3 | chr19:53499200-53507200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr19:53503200-53507000 | Weak transcription | Placenta | Placenta |
| 5 | chr19:53505800-53506200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr19:53505800-53506200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr19:53506000-53509800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
