Variant report
| Variant | esv3377232 |
|---|---|
| Chromosome Location | chr15:31878188-31878630 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs181657590 | chr15:31878204-31878205 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113531697 | chr15:31878216-31878217 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs35523973 | chr15:31878268-31878269 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs62004125 | chr15:31878279-31878280 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs569405881 | chr15:31878305-31878306 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530151013 | chr15:31878318-31878319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs551650153 | chr15:31878322-31878323 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376214974 | chr15:31878346-31878347 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs7178637 | chr15:31878352-31878353 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs534439489 | chr15:31878353-31878354 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs138909493 | chr15:31878405-31878406 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs7177783 | chr15:31878417-31878418 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs148952422 | chr15:31878424-31878425 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs556542003 | chr15:31878425-31878426 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs74012551 | chr15:31878491-31878492 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545270865 | chr15:31878522-31878523 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs558609085 | chr15:31878523-31878524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs190202534 | chr15:31878525-31878526 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs540868864 | chr15:31878542-31878543 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs182617603 | chr15:31878561-31878562 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs560609773 | chr15:31878624-31878625 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Angelman syndrome | 16183798 | 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 |
| 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 |
| Abnormal corpus callosum | 21572526 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Epilepsy | 20502679 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 19521722 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Epilepsy | 19521722 | CNVD |
| Mental retardation | 19521722 | CNVD |
| Schizophrenia | 19521646 | CNVD |
| Autism | 19050728 | CNVD |
| Schizophrenia | 19348701 | CNVD |
| Schizophrenia | 18668039 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Velocardiofacial syndrome | 19329560 | CNVD |
| Schizophrenia | 19443537 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Autism | 19955444 | CNVD |
| Autism | 20964600 | CNVD |
| Schizophrenia | 19955444 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Legius syndrome | 19443465 | CNVD |
| Holoprosencephaly | 21359414 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:31862400-31897000 | Weak transcription | Gastric | stomach |
| 2 | chr15:31868200-31880800 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr15:31872200-31886600 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr15:31875400-31878800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 5 | chr15:31875400-31883800 | Weak transcription | Brain Substantia Nigra | brain |
| 6 | chr15:31875600-31882400 | Weak transcription | Brain Hippocampus Middle | brain |
| 7 | chr15:31876600-31879200 | Enhancers | Placenta Amnion | Placenta Amnion |
| 8 | chr15:31877400-31886800 | Weak transcription | Brain Angular Gyrus | brain |
| 9 | chr15:31877800-31900800 | Weak transcription | Pancreas | Pancrea |
| 10 | chr15:31878000-31878400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 11 | chr15:31878400-31879400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 12 | chr15:31878600-31878800 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 13 | chr15:31878600-31878800 | Weak transcription | Brain Cingulate Gyrus | brain |
