Variant report
| Variant | esv3414224 |
|---|---|
| Chromosome Location | chr2:188122997-188123208 |
| 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 | chr2:188118124..188120319-chr2:188121977..188123485,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:24 , 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 | rs55935283 | chr2:188123039-188123040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373879725 | chr2:188123043-188123044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185847285 | chr2:188123047-188123048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs13017993 | chr2:188123051-188123052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs182418992 | chr2:188123055-188123056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370535132 | chr2:188123071-188123072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs376574737 | chr2:188123079-188123080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs71017382 | chr2:188123081-188123082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs367614831 | chr2:188123101-188123102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537406441 | chr2:188123113-188123114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs370328162 | chr2:188123117-188123118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs368296903 | chr2:188123124-188123125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372516572 | chr2:188123128-188123129 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551378554 | chr2:188123129-188123130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377062183 | chr2:188123131-188123132 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs374425938 | chr2:188123136-188123137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368965340 | chr2:188123150-188123151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs12991607 | chr2:188123153-188123154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs13018190 | chr2:188123155-188123156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs12991624 | chr2:188123167-188123168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs13018202 | chr2:188123179-188123180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs571207253 | chr2:188123185-188123186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs13018354 | chr2:188123207-188123208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs564537018 | chr2:188123208-188123209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:188122800-188123600 | Enhancers | HUVEC | blood vessel |
