Variant report
Variant | esv3373640 |
---|---|
Chromosome Location | chr11:83287329-83290177 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs537494011 | chr11:83287346-83287347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs144311103 | chr11:83287348-83287349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs536424063 | chr11:83287420-83287421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs554874784 | chr11:83287551-83287552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs76772394 | chr11:83287558-83287559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs486972 | chr11:83287642-83287643 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs537317189 | chr11:83287696-83287697 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs558131922 | chr11:83287784-83287785 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs180694426 | chr11:83287795-83287796 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs113766018 | chr11:83287870-83287871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs186395357 | chr11:83287873-83287874 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs191306696 | chr11:83287883-83287884 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs75850737 | chr11:83287906-83287907 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375450961 | chr11:83287909-83287910 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs542062499 | chr11:83287963-83287964 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs563446282 | chr11:83288028-83288029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs200981495 | chr11:83288081-83288082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs512556 | chr11:83288085-83288086 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs183539730 | chr11:83288105-83288106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs565318331 | chr11:83288234-83288235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532398557 | chr11:83288270-83288271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs141966695 | chr11:83288353-83288354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs35734934 | chr11:83288354-83288355 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs536716041 | chr11:83288358-83288359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs200933377 | chr11:83288380-83288381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs556639273 | chr11:83288382-83288383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs548395024 | chr11:83288387-83288388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs569867115 | chr11:83288491-83288492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs569581992 | chr11:83288502-83288503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs537390938 | chr11:83288513-83288514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs188607253 | chr11:83288515-83288516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs146293674 | chr11:83288532-83288533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs191056672 | chr11:83288539-83288540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534307350 | chr11:83288540-83288541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs183235281 | chr11:83288542-83288543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs76200112 | chr11:83288630-83288631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs373626833 | chr11:83288632-83288633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs377227319 | chr11:83288636-83288637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs548285181 | chr11:83288669-83288670 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs10898137 | chr11:83288936-83288937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs187556363 | chr11:83288989-83288990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs541901377 | chr11:83289079-83289080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs374634525 | chr11:83289085-83289086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs369932889 | chr11:83289086-83289087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201528737 | chr11:83289100-83289101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs370422830 | chr11:83289101-83289102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374419466 | chr11:83289103-83289104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs368193641 | chr11:83289104-83289105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs557204095 | chr11:83289112-83289113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs191320429 | chr11:83289114-83289115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Acute myeloid leukemia | 20729466 | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 16751803 | CNVD |
Seminomas | 18059402 | CNVD |
Cervical cancer | 21062161 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17157792 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 22429812 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Mental retardation | 17847001 | CNVD |
Melanoma | 19509136 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21785460 | CNVD |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 20164920 | CNVD |
Obesity | 20622171 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
Developmental delay | 21147756 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:83279000-83289800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
2 | chr11:83279200-83291200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
3 | chr11:83283800-83291400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
4 | chr11:83286400-83290000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
5 | chr11:83286400-83294200 | Weak transcription | NHEK | skin |
6 | chr11:83287000-83287800 | Weak transcription | Brain Hippocampus Middle | brain |
7 | chr11:83287600-83288000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
8 | chr11:83287600-83288000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
9 | chr11:83287800-83288000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
10 | chr11:83287800-83288000 | Enhancers | Brain Hippocampus Middle | brain |
11 | chr11:83288000-83289800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
12 | chr11:83288000-83290000 | Weak transcription | Brain Hippocampus Middle | brain |
13 | chr11:83289400-83290600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
14 | chr11:83289800-83290200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
15 | chr11:83289800-83290400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr11:83289800-83290400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
17 | chr11:83290000-83290200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
18 | chr11:83290000-83290200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
19 | chr11:83290000-83290200 | Enhancers | Brain Hippocampus Middle | brain |