Variant report
| Variant | esv3380229 |
|---|---|
| Chromosome Location | chr20:12979500-12979838 |
| 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 | chr20:12977715..12980207-chr20:12984575..12987738,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 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 | rs550077365 | chr20:12979526-12979527 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs570234135 | chr20:12979583-12979584 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112301417 | chr20:12979609-12979610 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs8114395 | chr20:12979616-12979617 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs34518058 | chr20:12979639-12979640 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566941569 | chr20:12979645-12979646 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs115815994 | chr20:12979671-12979672 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535044409 | chr20:12979675-12979676 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs17812036 | chr20:12979690-12979691 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 10 | rs556462093 | chr20:12979694-12979695 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs6041757 | chr20:12979717-12979718 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs578090604 | chr20:12979734-12979735 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs543921062 | chr20:12979742-12979743 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs34212981 | chr20:12979749-12979750 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs5840542 | chr20:12979798-12979799 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs33990618 | chr20:12979799-12979800 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 16397240 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 19627613 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Alagille syndrome | 22470819 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Alagille syndrome | 17576883 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ewing''s sarcoma | 18628472 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Kabuki syndrome | 21720541 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22102821 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:12978000-12981200 | Enhancers | HepG2 | liver |
| 2 | chr20:12978400-12981200 | Enhancers | Fetal Intestine Large | intestine |
| 3 | chr20:12979400-12979800 | Weak transcription | Fetal Intestine Small | intestine |
| 4 | chr20:12979800-12981200 | Enhancers | Fetal Intestine Small | intestine |
