Variant report
| Variant | esv3458348 |
|---|---|
| Chromosome Location | chr2:133246417-133248419 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:60)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:133239529..133242980-chr2:133243590..133246592,3 | K562 | blood: |
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-LYPD1-3 | chr2:133246127-133246661 | NONHSAT074536 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| YBX1P7 | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs115714414 | chr2:133246427-133246428 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs34081480 | chr2:133246443-133246444 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs143467721 | chr2:133246470-133246471 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs570416142 | chr2:133246475-133246476 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs534353502 | chr2:133246507-133246508 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs546651244 | chr2:133246510-133246511 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs568087375 | chr2:133246524-133246525 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs564338339 | chr2:133246547-133246548 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs11678281 | chr2:133246560-133246561 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs531946241 | chr2:133246565-133246566 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs557204179 | chr2:133246572-133246573 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs575565374 | chr2:133246574-133246575 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 13 | rs539742366 | chr2:133246602-133246603 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 14 | rs142321368 | chr2:133246603-133246604 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 15 | rs577154341 | chr2:133246657-133246658 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 16 | rs6757715 | chr2:133246664-133246665 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs114878873 | chr2:133246666-133246667 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs574845416 | chr2:133246674-133246675 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs145903801 | chr2:133246690-133246691 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs563535902 | chr2:133246705-133246706 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs539041108 | chr2:133246710-133246711 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs35007489 | chr2:133246754-133246755 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs531047691 | chr2:133246791-133246792 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs552435514 | chr2:133246805-133246806 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs6430356 | chr2:133246806-133246807 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs184485032 | chr2:133246845-133246846 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs370700693 | chr2:133246847-133246848 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs577043379 | chr2:133246849-133246850 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs189189276 | chr2:133246853-133246854 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs568110658 | chr2:133246867-133246868 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs138455187 | chr2:133246885-133246886 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs550744099 | chr2:133246897-133246898 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs116155066 | chr2:133246907-133246908 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs539680819 | chr2:133246908-133246909 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs558010078 | chr2:133246919-133246920 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs573077685 | chr2:133246928-133246929 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs374803599 | chr2:133246961-133246962 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs372288627 | chr2:133246976-133246977 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs553094879 | chr2:133246988-133246989 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs574537857 | chr2:133247008-133247009 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs181676655 | chr2:133247036-133247037 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs187036835 | chr2:133247037-133247038 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs374044598 | chr2:133247137-133247138 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs575408969 | chr2:133247158-133247159 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs190667115 | chr2:133247159-133247160 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs528794479 | chr2:133247207-133247208 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs180672015 | chr2:133247279-133247280 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs566359916 | chr2:133247308-133247309 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs530613708 | chr2:133247312-133247313 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs368628258 | chr2:133247316-133247317 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | 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 |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Neuroticism | 17667963 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:133233600-133261000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:133245000-133256200 | Weak transcription | A549 | lung |
| 3 | chr2:133246200-133246600 | Enhancers | Pancreas | Pancrea |
| 4 | chr2:133248400-133249400 | Enhancers | Duodenum Mucosa | Duodenum |
