Variant report
| Variant | esv3429472 |
|---|---|
| Chromosome Location | chr11:57143837-57144000 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:57143729..57146654-chr11:57150520..57152214,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201902945 | chr11:57143842-57143843 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs111218886 | chr11:57143853-57143854 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs111627911 | chr11:57143878-57143879 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs201113876 | chr11:57143894-57143895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12362538 | chr11:57143897-57143898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs186252814 | chr11:57143899-57143900 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs113939101 | chr11:57143907-57143908 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200498222 | chr11:57143946-57143947 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs191753508 | chr11:57143953-57143954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190774129 | chr11:57143966-57143967 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376133908 | chr11:57143975-57143976 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs367944920 | chr11:57143979-57143980 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs371495711 | chr11:57143980-57143981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555598250 | chr11:57143997-57143998 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201811726 | chr11:57143998-57143999 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495309 | CNVD |
| Autism | 20808228 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:57138800-57144200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr11:57142800-57144400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr11:57143200-57144200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr11:57143600-57144000 | Weak transcription | Fetal Muscle Leg | muscle |
| 5 | chr11:57143600-57144600 | Weak transcription | A549 | lung |
| 6 | chr11:57144000-57144400 | Active TSS | H9 Cell Line | embryonic stem cell |
| 7 | chr11:57144000-57144400 | Active TSS | HUES64 Cell Line | embryonic stem cell |
| 8 | chr11:57144000-57144400 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
