Variant report
| Variant | esv3490289 |
|---|---|
| Chromosome Location | chr15:30289051-30289491 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555067573 | chr15:30289054-30289055 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184085434 | chr15:30289056-30289057 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs16954915 | chr15:30289066-30289067 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs16954920 | chr15:30289071-30289072 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs188473997 | chr15:30289077-30289078 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181138629 | chr15:30289094-30289095 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs553742712 | chr15:30289101-30289102 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112900574 | chr15:30289113-30289114 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs528065047 | chr15:30289114-30289115 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs549682368 | chr15:30289138-30289139 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs56168004 | chr15:30289209-30289210 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113637383 | chr15:30289240-30289241 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs55827606 | chr15:30289252-30289253 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201185529 | chr15:30289278-30289279 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs112019506 | chr15:30289308-30289309 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs55788707 | chr15:30289370-30289371 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112303868 | chr15:30289376-30289377 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs562656738 | chr15:30289418-30289419 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs139100219 | chr15:30289433-30289434 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs185371858 | chr15:30289456-30289457 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189802365 | chr15:30289457-30289458 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182424150 | chr15:30289459-30289460 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs547271779 | chr15:30289470-30289471 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs143632758 | chr15:30289473-30289474 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:152)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| HDAC8 | 0 | CNVD |
| NIPBL | 0 | CNVD |
| RAD21 | 0 | CNVD |
| SMC1A | 0 | CNVD |
| SMC3 | 0 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prader-willi syndrome | 21504564 | CNVD |
| The inv dup or idic syndrome | 19019226 | CNVD |
| Prader-willi syndrome | 21233802 | CNVD |
| Angelman syndrome | 16617304 | CNVD |
| Angelman syndrome | 20970697 | CNVD |
| Autism | 22958593 | CNVD |
| Prader-willi syndrome | 16617304 | CNVD |
| Prader-willi syndrome | 18923514 | CNVD |
| Prader-willi syndrome | 20970697 | CNVD |
| Angelman syndrome | 16183798 | CNVD |
| Angelman syndrome | 18923514 | CNVD |
| Prader-willi syndrome | 22241247 | CNVD |
| Epilepsy | 20970697 | CNVD |
| Autism | 20970697 | CNVD |
| Autism | 19935738 | CNVD |
| Autism | 22930557 | CNVD |
| Autism | 19966786 | CNVD |
| Autism | 18923514 | CNVD |
| Autism | 18925931 | CNVD |
| Autism | 18835857 | CNVD |
| Prader-willi syndrome | 18835857 | CNVD |
| Prader-willi syndrome | 22152151 | CNVD |
| Autism | 22241247 | CNVD |
| 15q-syndrome | 21725066 | CNVD |
| Prader-willi syndrome | 21503198 | CNVD |
| Autism | 21956041 | CNVD |
| Prader-willi syndrome | 16760730 | CNVD |
| Prader-willi syndrome | 22470819 | CNVD |
| prenatal diagnosis | 20453657 | CNVD |
| Prader-willi syndrome | 17867985 | CNVD |
| Angelman syndrome | 21072004 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Prader-willi syndrome | 18781185 | CNVD |
| Melanoma | 18172304 | CNVD |
| Autism | 17322880 | CNVD |
| Prader-willi syndrome | 19329560 | CNVD |
| Autism | 17999366 | CNVD |
| Autism | 17901113 | CNVD |
| Neurodevelopmental disorder | 17015230 | CNVD |
| Autism | 18414403 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Mental retardation | 18923513 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Schizophrenia | 19197363 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Angelman syndrome | 18787571 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| idiopathic generalized epilepsy | 19843651 | CNVD |
| Autism | 20531469 | CNVD |
| Neuropsychiatric disorder | 20506139 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Autism | 19843651 | CNVD |
| Schizophrenia | 19843651 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Cognitive impairment | 21505072 | CNVD |
| Autism | 22543975 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22495309 | CNVD |
| Schizophrenia | 20388499 | CNVD |
| Epilepsy | 22499536 | CNVD |
| Schizophrenia | 22499536 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Schizophrenia | 20587603 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Schizophrenia | 21285140 | CNVD |
| Schizophrenia | 20553308 | CNVD |
| Schizophrenia | 21956041 | CNVD |
| Schizophrenia | 20970697 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Mental retardation | 21956041 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Autism | 21269290 | CNVD |
| Intellectual disability | 21269290 | CNVD |
| Schizophrenia | 21269290 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Epilepsy | 19289393 | CNVD |
| Epilepsy | 20643615 | CNVD |
| Mental retardation | 19289393 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Schizophrenia | 19289393 | CNVD |
| dysmorphic features | 19289393 | CNVD |
| idiopathic epilepsies | 19341504 | CNVD |
| idiopathic generalized epilepsy | 19592580 | CNVD |
| idiopathic generalized epilepsy | 19136953 | CNVD |
| Autism | 22094647 | CNVD |
| Developmental delay | 19898479 | CNVD |
| Mental retardation | 18278044 | CNVD |
| Mental retardation | 19898479 | CNVD |
| Prader-willi syndrome | 18854863 | CNVD |
| Schizophrenia | 19855392 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:30281400-30293600 | Weak transcription | Brain Cingulate Gyrus | brain |
| 2 | chr15:30282600-30292600 | Weak transcription | Brain Substantia Nigra | brain |
| 3 | chr15:30283600-30293000 | Weak transcription | Brain Hippocampus Middle | brain |
| 4 | chr15:30286600-30293200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 5 | chr15:30287000-30289400 | Weak transcription | Duodenum Mucosa | Duodenum |
| 6 | chr15:30289000-30290200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 7 | chr15:30289400-30290200 | Enhancers | Duodenum Mucosa | Duodenum |
| 8 | chr15:30289400-30290800 | Enhancers | Rectal Mucosa Donor 31 | rectum |
