Variant report
| Variant | esv3354530 |
|---|---|
| Chromosome Location | chr15:30362960-30364108 |
| 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:41 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs139362755 | chr15:30362965-30362966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374562046 | chr15:30362977-30362978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs576929303 | chr15:30363015-30363016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545176061 | chr15:30363039-30363040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs112816833 | chr15:30363108-30363109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs572390245 | chr15:30363141-30363142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs541011800 | chr15:30363142-30363143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535804400 | chr15:30363155-30363156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs530347038 | chr15:30363156-30363157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs550681643 | chr15:30363211-30363212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144402435 | chr15:30363224-30363225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563737385 | chr15:30363307-30363308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529778450 | chr15:30363343-30363344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs200040871 | chr15:30363375-30363376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs182211541 | chr15:30363377-30363378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs552030208 | chr15:30363383-30363384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs537829958 | chr15:30363456-30363457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs535904498 | chr15:30363466-30363467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs201266434 | chr15:30363483-30363484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs186558936 | chr15:30363509-30363510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12898958 | chr15:30363549-30363550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs565755501 | chr15:30363552-30363553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs528105259 | chr15:30363564-30363565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs372356662 | chr15:30363578-30363579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs202133919 | chr15:30363592-30363593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs61615130 | chr15:30363597-30363598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs58232655 | chr15:30363649-30363650 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs536864019 | chr15:30363660-30363661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs61302103 | chr15:30363733-30363734 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs59325541 | chr15:30363744-30363745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376506900 | chr15:30363802-30363803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs376714756 | chr15:30363803-30363804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs60670675 | chr15:30363813-30363814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs202062159 | chr15:30363818-30363819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs190340905 | chr15:30363955-30363956 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs148787632 | chr15:30363991-30363992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs557247051 | chr15:30363994-30363995 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs564971807 | chr15:30364004-30364005 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs570602507 | chr15:30364025-30364026 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs539610924 | chr15:30364068-30364069 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs192892048 | chr15:30364069-30364070 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:143)
| 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 |
| 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 |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Autism | 22543975 | 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 | chr15:30357400-30364000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr15:30358200-30367200 | Weak transcription | Brain Anterior Caudate | brain |
| 3 | chr15:30360400-30364800 | Weak transcription | HSMMtube | muscle |
| 4 | chr15:30361200-30364000 | Weak transcription | HSMM | muscle |
| 5 | chr15:30362800-30364800 | Weak transcription | Brain Cingulate Gyrus | brain |
| 6 | chr15:30364000-30364200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 7 | chr15:30364000-30364200 | Enhancers | HSMM | muscle |
