Variant report
Variant | esv3379559 |
---|---|
Chromosome Location | chr3:21104453-21104690 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:21097762..21100655-chr3:21104242..21105984,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs542117130 | chr3:21104504-21104505 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs111277554 | chr3:21104546-21104547 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs147402022 | chr3:21104564-21104565 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs545565827 | chr3:21104584-21104585 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs9835240 | chr3:21104598-21104599 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs537482153 | chr3:21104644-21104645 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs139712779 | chr3:21104656-21104657 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Breast cancer | 17133270 | CNVD |
Developmental delay | 21147756 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 20688739 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:21086800-21108800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr3:21101400-21104600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chr3:21101400-21106800 | Weak transcription | Aorta | Aorta |
4 | chr3:21103800-21104800 | Enhancers | Duodenum Smooth Muscle | Duodenum |
5 | chr3:21104000-21104600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr3:21104000-21104600 | Enhancers | Fetal Lung | lung |
7 | chr3:21104000-21105200 | Enhancers | Fetal Stomach | stomach |
8 | chr3:21104600-21104800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
9 | chr3:21104600-21105200 | Enhancers | Fetal Muscle Leg | muscle |
10 | chr3:21104600-21108600 | Weak transcription | Fetal Lung | lung |