Variant report
| Variant | esv3427372 |
|---|---|
| Chromosome Location | chr20:14498714-14499118 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr20:14499027-14499894 | SK-N-SH | brain: | n/a | chr20:14499840-14499854 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MACROD2 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:17 , 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 | rs423060 | chr20:14498717-14498718 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs568635889 | chr20:14498728-14498729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529611493 | chr20:14498765-14498766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs57036728 | chr20:14498774-14498775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547840758 | chr20:14498776-14498777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs34028063 | chr20:14498777-14498778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73096677 | chr20:14498859-14498860 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs116756584 | chr20:14498879-14498880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs10717138 | chr20:14498899-14498900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs397816075 | chr20:14498904-14498905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533827579 | chr20:14498919-14498920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs149645918 | chr20:14498927-14498928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570603581 | chr20:14498937-14498938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs73096678 | chr20:14498989-14498990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556353563 | chr20:14499005-14499006 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs118018076 | chr20:14499014-14499015 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs539013014 | chr20:14499070-14499071 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Glioblastoma multiforme | 21138945 | CNVD |
| Cancer | 20164919 | CNVD |
| Multiple sclerosis | 20663923 | CNVD |
| Schizophrenia | 20663923 | CNVD |
| brain infarct | 20663923 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:14489000-14499400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr20:14494000-14499000 | Weak transcription | Fetal Heart | heart |
| 3 | chr20:14499000-14499200 | Enhancers | Fetal Heart | heart |
