Variant report
| Variant | esv2198480 |
|---|---|
| Chromosome Location | chr19:43067244-43067248 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr19:43067160-43067310 | A549 | lung: | n/a | n/a |
| 2 | CTCF | chr19:43067160-43067310 | AG10803 | skin: | n/a | n/a |
| 3 | CTCF | chr19:43066858-43069523 | A549 | lung: | n/a | n/a |
| 4 | SMC3 | chr19:43067167-43067974 | SK-N-SH | brain: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:43067242..43067993-chr19:43100482..43101078,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CEACAM1 | TF binding region |
| CEACAMP2 | 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 | rs112644507 | chr19:43067244-43067245 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs59889255 | chr19:43067246-43067247 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21858162 | 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 |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
| Rhabdomyosarcoma | 16790082 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:43050600-43067800 | Weak transcription | Right Atrium | heart |
| 2 | chr19:43060200-43067600 | Weak transcription | Adipose Nuclei | Adipose |
| 3 | chr19:43064600-43067600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr19:43064800-43070600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 5 | chr19:43066400-43067800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 6 | chr19:43066600-43067800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr19:43067200-43069200 | Enhancers | Brain Hippocampus Middle | brain |
