Variant report
| Variant | esv998496 |
|---|---|
| Chromosome Location | chr19:21513970-21514156 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:21511256..21513599-chr19:21513725..21515814,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000182141 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201772838 | chr19:21513971-21513972 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs187927241 | chr19:21513977-21513978 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs192604301 | chr19:21513984-21513985 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs537224646 | chr19:21513991-21513992 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs555561884 | chr19:21513992-21513993 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs573961274 | chr19:21513993-21513994 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs55941378 | chr19:21514001-21514002 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs541714613 | chr19:21514035-21514036 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs553437063 | chr19:21514038-21514039 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs373594092 | chr19:21514150-21514151 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs376584102 | chr19:21514152-21514153 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:39)
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:21512400-21515000 | Weak transcription | H9 Cell Line | embryonic stem cell |
