Variant report
| Variant | esv3414697 |
|---|---|
| Chromosome Location | chr15:29850386-29851646 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs80142742 | chr15:29850408-29850409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535917855 | chr15:29850417-29850418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs79603785 | chr15:29850435-29850436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9888716 | chr15:29850447-29850448 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs201978801 | chr15:29850457-29850458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs538623192 | chr15:29850461-29850462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs558298264 | chr15:29850488-29850489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183145487 | chr15:29850489-29850490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs541355026 | chr15:29850528-29850529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs561039505 | chr15:29850529-29850530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs574687559 | chr15:29850532-29850533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542717993 | chr15:29850534-29850535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562992938 | chr15:29850535-29850536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs552971032 | chr15:29850545-29850546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377203055 | chr15:29850546-29850547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565256432 | chr15:29850583-29850584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs148653836 | chr15:29850584-29850585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs188183854 | chr15:29850610-29850611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs553944912 | chr15:29850623-29850624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs141848711 | chr15:29850635-29850636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs150602634 | chr15:29850636-29850637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs370368879 | chr15:29850647-29850648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs527948734 | chr15:29850689-29850690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs547685537 | chr15:29850694-29850695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs567479775 | chr15:29850703-29850704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs12913593 | chr15:29850745-29850746 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs550153294 | chr15:29850751-29850752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs12905831 | chr15:29850789-29850790 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs138852970 | chr15:29850794-29850795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs72713719 | chr15:29850839-29850840 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs12899103 | chr15:29850850-29850851 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs201470010 | chr15:29850879-29850880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs199909602 | chr15:29850883-29850884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs369572837 | chr15:29850885-29850886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs534202489 | chr15:29850886-29850887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs538736945 | chr15:29850888-29850889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs142304429 | chr15:29850909-29850910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs140829765 | chr15:29850912-29850913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs370447958 | chr15:29850915-29850916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs386782554 | chr15:29850918-29850919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs374784897 | chr15:29850924-29850925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs58484246 | chr15:29850991-29850992 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs534871421 | chr15:29851009-29851010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs554914475 | chr15:29851074-29851075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs574828443 | chr15:29851077-29851078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs191688004 | chr15:29851176-29851177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs556908920 | chr15:29851200-29851201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs111817899 | chr15:29851217-29851218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs576446139 | chr15:29851254-29851255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs184603978 | chr15:29851290-29851291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:160)
| 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 |
| idiopathic generalized epilepsy | 19843651 | 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 |
| 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 |
| Epilepsy | 20502679 | CNVD |
| Autism | 22543975 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22495309 | CNVD |
| Schizophrenia | 20388499 | CNVD |
| Autism | 20841430 | 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 |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:29848000-29859200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr15:29848200-29861200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr15:29850000-29862000 | Weak transcription | Pancreas | Pancrea |
| 4 | chr15:29851400-29851600 | Enhancers | Lung | lung |
