Variant report
| Variant | esv3326554 |
|---|---|
| Chromosome Location | chr3:110210804-110211002 |
| 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 | chr3:110202579..110205350-chr3:110208750..110211546,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
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 | rs546017296 | chr3:110210822-110210823 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs62271592 | chr3:110210839-110210840 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs13081130 | chr3:110210864-110210865 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs138847508 | chr3:110210868-110210869 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562377999 | chr3:110210893-110210894 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530961173 | chr3:110210898-110210899 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs185212299 | chr3:110210922-110210923 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141985914 | chr3:110210927-110210928 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112743919 | chr3:110210932-110210933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563992507 | chr3:110210974-110210975 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533029251 | chr3:110210992-110210993 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:110209200-110211400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr3:110209800-110211000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr3:110210000-110211000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr3:110210000-110211000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr3:110210200-110211000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr3:110210200-110211000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr3:110210800-110211600 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
