Variant report
| Variant | esv3435626 |
|---|---|
| Chromosome Location | chr10:21533852-21534132 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr10:21534087-21534184 | HepG2 | liver: | n/a | chr10:21534111-21534122 chr10:21534111-21534122 chr10:21534106-21534121 |
| 2 | MAFK | chr10:21534006-21534202 | HepG2 | liver: | n/a | chr10:21534111-21534122 chr10:21534111-21534122 chr10:21534106-21534121 |
| 3 | MYC | chr10:21533994-21534019 | MCF-7 | breast: | 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 | chr10:21523588..21525703-chr10:21531837..21534250,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| LUZP4P1 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:14 , 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 | rs72793015 | chr10:21533883-21533884 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs549630230 | chr10:21533884-21533885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs566348489 | chr10:21533889-21533890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs371764881 | chr10:21533920-21533921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139701484 | chr10:21533928-21533929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs35172520 | chr10:21533937-21533938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149343817 | chr10:21534016-21534017 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs115775023 | chr10:21534036-21534037 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs35531929 | chr10:21534062-21534063 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs192256985 | chr10:21534074-21534075 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs66923188 | chr10:21534075-21534076 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs375215224 | chr10:21534083-21534084 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs569808563 | chr10:21534095-21534096 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs78840157 | chr10:21534127-21534128 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:35)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Glioblastoma multiforme | 21525872 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:21522000-21549600 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr10:21522200-21549200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 3 | chr10:21524000-21548000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr10:21524000-21549000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 5 | chr10:21524000-21549400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr10:21530600-21549600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
