Variant report
| Variant | esv3443967 |
|---|---|
| Chromosome Location | chr19:23477747-23477943 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
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 | rs555814661 | chr19:23477749-23477750 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77470723 | chr19:23477757-23477758 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs76849165 | chr19:23477764-23477765 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73563447 | chr19:23477790-23477791 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs375554108 | chr19:23477819-23477820 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs574573814 | chr19:23477821-23477822 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73563449 | chr19:23477851-23477852 | Weak transcription Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs73563453 | chr19:23477914-23477915 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535536652 | chr19:23477936-23477937 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs375967789 | chr19:23477937-23477938 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:41)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chordoma | 18071362 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| ovarian endometriomas | 16273235 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:23468600-23492600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr19:23477600-23478000 | Active TSS | Brain Substantia Nigra | brain |
