Variant report
| Variant | esv16020 |
|---|---|
| Chromosome Location | chr3:99924156-99924635 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:201727914..201730081-chr3:99923240..99926220,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000252759 | chromatin interactions |
| ENSG00000013441 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:15 , 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 | rs34692245 | chr3:99924162-99924163 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs559120440 | chr3:99924166-99924167 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs139601273 | chr3:99924185-99924186 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs144239570 | chr3:99924222-99924223 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs554710458 | chr3:99924251-99924252 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs576361456 | chr3:99924283-99924284 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs79147820 | chr3:99924320-99924321 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs571493371 | chr3:99924330-99924331 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 9 | rs549177272 | chr3:99924390-99924391 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 10 | rs373753254 | chr3:99924406-99924407 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 11 | rs146544795 | chr3:99924476-99924477 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 12 | rs113381478 | chr3:99924479-99924480 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 13 | rs189855876 | chr3:99924539-99924540 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 14 | rs530368753 | chr3:99924581-99924582 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 15 | rs181776114 | chr3:99924622-99924623 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Breast cancer | 16608533 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:99917600-99928600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr3:99917800-99933000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr3:99923000-99928000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 4 | chr3:99924000-99924400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 5 | chr3:99924200-99924800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 6 | chr3:99924400-99928800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
