Variant report
Variant | esv3339931 |
---|---|
Chromosome Location | chr11:59814776-59818974 |
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 | rs149153255 | chr11:59814793-59814794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs112324466 | chr11:59814824-59814825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs557619931 | chr11:59814828-59814829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs186737819 | chr11:59814851-59814852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs546312568 | chr11:59814854-59814855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs373715286 | chr11:59814866-59814867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs143295946 | chr11:59814878-59814879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs146949348 | chr11:59814909-59814910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574253529 | chr11:59814923-59814924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs148290699 | chr11:59814963-59814964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs565802558 | chr11:59814968-59814969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs536344036 | chr11:59814981-59814982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs554653519 | chr11:59815005-59815006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs377070126 | chr11:59815015-59815016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs141427511 | chr11:59815022-59815023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs569107635 | chr11:59815054-59815055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs371771604 | chr11:59815057-59815058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs538118445 | chr11:59815107-59815108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs1144748 | chr11:59815117-59815118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs12362575 | chr11:59815128-59815129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556787103 | chr11:59815134-59815135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs10501381 | chr11:59815139-59815140 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs545617936 | chr11:59815155-59815156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554060813 | chr11:59815156-59815157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs191509253 | chr11:59815185-59815186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs542663868 | chr11:59815188-59815189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs560957950 | chr11:59815201-59815202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs531566219 | chr11:59815221-59815222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs183989892 | chr11:59815275-59815276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188637451 | chr11:59815291-59815292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs532290667 | chr11:59815326-59815327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs554194487 | chr11:59815357-59815358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs373583956 | chr11:59815365-59815366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs547611465 | chr11:59815496-59815497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs663925 | chr11:59815517-59815518 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
36 | rs529819417 | chr11:59815567-59815568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs562787978 | chr11:59815580-59815581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs150411430 | chr11:59815594-59815595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs1151102 | chr11:59815640-59815641 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs138472245 | chr11:59815659-59815660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs558252920 | chr11:59815710-59815711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs571945893 | chr11:59815713-59815714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs545457361 | chr11:59815784-59815785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs78420786 | chr11:59815834-59815835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs565055127 | chr11:59815865-59815866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs554344171 | chr11:59815888-59815889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs192977922 | chr11:59815926-59815927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs542729715 | chr11:59815996-59815997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs1286383 | chr11:59816001-59816002 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185625181 | chr11:59816054-59816055 | Weak transcription Enhancers | 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 |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | 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 |
Prostate cancer | 18632612 | 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 |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Chordoma | 21602918 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:59813800-59822400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr11:59816000-59816200 | Enhancers | Primary hematopoietic stem cells | blood |