Variant report
Variant | esv3489661 |
---|---|
Chromosome Location | chr2:35968350-36003531 |
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 | rs138522881 | chr2:35968359-35968360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs556192226 | chr2:35968372-35968373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185654188 | chr2:35968391-35968392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs149253759 | chr2:35968409-35968410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs77826304 | chr2:35968429-35968430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs144588799 | chr2:35968463-35968464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs545600703 | chr2:35968476-35968477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188846884 | chr2:35968506-35968507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs180887193 | chr2:35968508-35968509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs569085266 | chr2:35968526-35968527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs549882957 | chr2:35968545-35968546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs148474403 | chr2:35968562-35968563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs529288500 | chr2:35968578-35968579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs115922804 | chr2:35968583-35968584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs13001188 | chr2:35968593-35968594 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs199688162 | chr2:35968638-35968639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs557155608 | chr2:35968655-35968656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs12477575 | chr2:35968672-35968673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs12477576 | chr2:35968675-35968676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs114160082 | chr2:35968687-35968688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs578260048 | chr2:35968745-35968746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537778324 | chr2:35968750-35968751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs185968610 | chr2:35968776-35968777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs369158672 | chr2:35968793-35968794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs574345598 | chr2:35968794-35968795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs535107550 | chr2:35968801-35968802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs553411228 | chr2:35968864-35968865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs146284297 | chr2:35968879-35968880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs530429717 | chr2:35968963-35968964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs74935203 | chr2:35968980-35968981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545586724 | chr2:35969006-35969007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs62147765 | chr2:35969058-35969059 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs192129528 | chr2:35969133-35969134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs12470535 | chr2:35969154-35969155 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs573574582 | chr2:35969286-35969287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs142706737 | chr2:35969295-35969296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs557931528 | chr2:35969300-35969301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs529243293 | chr2:35969302-35969303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183950699 | chr2:35969319-35969320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs543904724 | chr2:35969321-35969322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs559877259 | chr2:35969360-35969361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs7583458 | chr2:35969370-35969371 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs551982842 | chr2:35969378-35969379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs373650905 | chr2:35969393-35969394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs75138038 | chr2:35969416-35969417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs186853910 | chr2:35969438-35969439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs549605668 | chr2:35969449-35969450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs567872772 | chr2:35969505-35969506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117145860 | chr2:35969526-35969527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs7569751 | chr2:35969555-35969556 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17393978 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 18632612 | CNVD |
Bladder cancer | 21909424 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Leukemia | 18628472 | CNVD |
Autism | 19521722 | CNVD |
Autism | 18522746 | CNVD |
Breast cancer | 21364760 | CNVD |
Wilms tumour | 21544195 | CNVD |
Non-small cell lung cancer | 18927303 | CNVD |
Hereditary gingival fibromatosis | 19633868 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21045282 | CNVD |
Prostate cancer | 21965145 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21508638 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Neurocytoma | 17123091 | CNVD |
Autism | 22495309 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:35963800-35971600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
2 | chr2:35963800-35972000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
3 | chr2:35971600-35972000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
4 | chr2:35972000-35972200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
5 | chr2:35977000-35977200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr2:35977200-35980000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr2:35980000-35984600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr2:35984600-35985000 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr2:35985000-35986600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr2:35986600-35987000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
11 | chr2:35987000-35990600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr2:35990600-35991600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr2:35997000-36004600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |