Variant report
| Variant | esv3396251 |
|---|---|
| Chromosome Location | chr20:12809275-12809568 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529097598 | chr20:12809300-12809301 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs199945180 | chr20:12809313-12809314 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs200543343 | chr20:12809315-12809316 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570367446 | chr20:12809327-12809328 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs397728658 | chr20:12809334-12809335 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200728791 | chr20:12809386-12809387 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs375209370 | chr20:12809388-12809389 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs6109571 | chr20:12809390-12809391 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145467088 | chr20:12809405-12809406 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374848380 | chr20:12809422-12809423 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs578037118 | chr20:12809447-12809448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566824695 | chr20:12809451-12809452 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs10153999 | chr20:12809458-12809459 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs147604285 | chr20:12809472-12809473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs140831391 | chr20:12809505-12809506 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs529355144 | chr20:12809511-12809512 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs549486813 | chr20:12809519-12809520 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs562537839 | chr20:12809521-12809522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs6041650 | chr20:12809535-12809536 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs186994232 | chr20:12809558-12809559 | Weak transcription Enhancers | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:12806600-12809400 | Weak transcription | Fetal Brain Female | brain |
| 2 | chr20:12808000-12810200 | Enhancers | Fetal Brain Male | brain |
| 3 | chr20:12808400-12809400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr20:12808600-12809400 | Enhancers | Brain Germinal Matrix | brain |
| 5 | chr20:12808600-12818200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 6 | chr20:12808800-12809800 | Weak transcription | Fetal Muscle Leg | muscle |
| 7 | chr20:12809000-12816400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr20:12809400-12809800 | Enhancers | Fetal Brain Female | brain |
| 9 | chr20:12809400-12810200 | Weak transcription | Brain Germinal Matrix | brain |
