Variant report
| Variant | esv3406263 |
|---|---|
| Chromosome Location | chr3:110151512-110153660 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs79695440 | chr3:110152807-110152808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs149513845 | chr3:110152838-110152839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs144019753 | chr3:110152859-110152860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539294068 | chr3:110152868-110152869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs13080207 | chr3:110152882-110152883 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs572561823 | chr3:110152885-110152886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534897080 | chr3:110152892-110152893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs555193149 | chr3:110152930-110152931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115111128 | chr3:110152992-110152993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs543148033 | chr3:110152998-110152999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373547898 | chr3:110153003-110153004 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs576451597 | chr3:110153007-110153008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs10934040 | chr3:110153012-110153013 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs184671751 | chr3:110153072-110153073 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs528425377 | chr3:110153085-110153086 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs569286182 | chr3:110153128-110153129 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138888474 | chr3:110153177-110153178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs4682578 | chr3:110153221-110153222 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs530199777 | chr3:110153226-110153227 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs73209557 | chr3:110153228-110153229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs570021130 | chr3:110153229-110153230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs73854038 | chr3:110153242-110153243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs397963185 | chr3:110153260-110153261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs4682579 | chr3:110153261-110153262 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs190303889 | chr3:110153273-110153274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs142037218 | chr3:110153328-110153329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs554727939 | chr3:110153360-110153361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs567607988 | chr3:110153372-110153373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs200212639 | chr3:110153378-110153379 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs536719127 | chr3:110153398-110153399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs3957568 | chr3:110153428-110153429 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs34099633 | chr3:110153439-110153440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs537846013 | chr3:110153480-110153481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs576387237 | chr3:110153489-110153490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs35904317 | chr3:110153501-110153502 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs77605370 | chr3:110153542-110153543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs573030734 | chr3:110153569-110153570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs542139748 | chr3:110153609-110153610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| 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 |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:110152800-110153200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 2 | chr3:110152800-110153200 | Enhancers | H9 Cell Line | embryonic stem cell |
| 3 | chr3:110152800-110153600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr3:110152800-110153600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr3:110152800-110153800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr3:110152800-110153800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr3:110152800-110154200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 8 | chr3:110152800-110154600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 9 | chr3:110153200-110153600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
