Variant report
| Variant | esv3363565 |
|---|---|
| Chromosome Location | chr2:172137862-172138342 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
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Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs62181335 | chr2:172137893-172137894 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs558514024 | chr2:172137907-172137908 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs139380112 | chr2:172137931-172137932 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375816311 | chr2:172138028-172138029 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs78578736 | chr2:172138036-172138037 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs79098529 | chr2:172138051-172138052 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79125271 | chr2:172138085-172138086 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs551194182 | chr2:172138099-172138100 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs186659559 | chr2:172138113-172138114 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191463124 | chr2:172138135-172138136 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs142512309 | chr2:172138252-172138253 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs11684294 | chr2:172138272-172138273 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs150920671 | chr2:172138317-172138318 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:44)
| 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 |
| Cancer | 20164919 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Donnai-Barrow syndrome | 21085971 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Limb abnormalities | 22140379 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:172129000-172138800 | Weak transcription | Rectal Smooth Muscle | rectum |
| 2 | chr2:172136800-172138000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 3 | chr2:172137000-172139000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr2:172137200-172140200 | Weak transcription | HepG2 | liver |
| 5 | chr2:172137800-172138400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr2:172138000-172138200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr2:172138200-172143600 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
