Variant report
| Variant | esv2304624 |
|---|---|
| Chromosome Location | chr9:79058616-79059045 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:79058598..79061580-chr9:79067952..79069510,2 | MCF-7 | breast: | |
| 2 | chr9:79056464..79059191-chr9:79073425..79075482,2 | MCF-7 | breast: | |
| 3 | chr9:79018063..79018678-chr9:79058921..79059562,2 | MCF-7 | breast: | |
| 4 | chr9:79057975..79060162-chr9:79063071..79066178,3 | MCF-7 | breast: | |
| 5 | chr9:79057879..79060217-chr9:79273582..79275232,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000187210 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:33 , 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 | rs11144904 | chr9:79058626-79058627 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs189679754 | chr9:79058633-79058634 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs147693075 | chr9:79058670-79058671 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs142478697 | chr9:79058712-79058713 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs531747020 | chr9:79058729-79058730 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs551682700 | chr9:79058732-79058733 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs111700897 | chr9:79058749-79058750 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs534202012 | chr9:79058750-79058751 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs548089825 | chr9:79058751-79058752 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs367635122 | chr9:79058792-79058793 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs145373981 | chr9:79058793-79058794 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs201815827 | chr9:79058813-79058814 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs199972091 | chr9:79058815-79058816 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs373434254 | chr9:79058817-79058818 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs140988146 | chr9:79058818-79058819 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs574930532 | chr9:79058838-79058839 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs140375904 | chr9:79058846-79058847 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs201262371 | chr9:79058847-79058848 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs12348179 | chr9:79058850-79058851 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs202176218 | chr9:79058854-79058855 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs137977924 | chr9:79058862-79058863 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs577290501 | chr9:79058866-79058867 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs141010911 | chr9:79058870-79058871 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs375799979 | chr9:79058890-79058891 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs370093621 | chr9:79058894-79058895 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs537721198 | chr9:79058898-79058899 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs368078909 | chr9:79058902-79058903 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs10122486 | chr9:79058906-79058907 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs558457003 | chr9:79058908-79058909 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs13299449 | chr9:79058963-79058964 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs71509879 | chr9:79058979-79058980 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs373173309 | chr9:79058984-79058985 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs573704699 | chr9:79059041-79059042 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Leukemia | 18688285 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Melanoma | 17363583 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:79057200-79058800 | Weak transcription | HepG2 | liver |
| 2 | chr9:79057200-79059200 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
| 3 | chr9:79057200-79062200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 4 | chr9:79057200-79062600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 5 | chr9:79057400-79062600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 6 | chr9:79057400-79062600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 7 | chr9:79057400-79062600 | Weak transcription | Osteobl | bone |
| 8 | chr9:79058000-79059000 | Weak transcription | GM12878-XiMat | blood |
| 9 | chr9:79058000-79062800 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
| 10 | chr9:79058200-79059000 | Weak transcription | Fetal Intestine Small | intestine |
| 11 | chr9:79058600-79060000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 12 | chr9:79058600-79060000 | Enhancers | Stomach Mucosa | stomach |
| 13 | chr9:79059000-79059200 | Enhancers | HepG2 | liver |
| 14 | chr9:79059000-79059600 | Enhancers | GM12878-XiMat | blood |
| 15 | chr9:79059000-79060000 | Enhancers | Fetal Intestine Small | intestine |
