Variant report
| Variant | nsv977154 |
|---|---|
| Chromosome Location | chr12:33283080-33288423 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:33287934..33289465-chr12:33290308..33292907,2 | K562 | blood: | |
| 2 | chr12:33282689..33284420-chr12:33286427..33288390,2 | MCF-7 | breast: | |
| 3 | chr12:33276474..33280086-chr12:33280622..33283450,3 | MCF-7 | breast: | |
| 4 | chr12:33282689..33284420-chr12:33286427..33288390,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 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 | rs550209281 | chr12:33286670-33286671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11449896 | chr12:33286679-33286680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs397761200 | chr12:33286684-33286685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs574349351 | chr12:33286694-33286695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs10844480 | chr12:33286695-33286696 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs142040145 | chr12:33286710-33286711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563108658 | chr12:33286714-33286715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs117672147 | chr12:33286731-33286732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs545565286 | chr12:33286749-33286750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs541795972 | chr12:33286791-33286792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs559438767 | chr12:33286800-33286801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183249695 | chr12:33286820-33286821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201684344 | chr12:33286830-33286831 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs556490611 | chr12:33286835-33286836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs35135715 | chr12:33286844-33286845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs187908524 | chr12:33286870-33286871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs531197613 | chr12:33286897-33286898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs551280621 | chr12:33286979-33286980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chordoma | 18071362 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 21272361 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Alcoholism | 21790672 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33286600-33287000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
