Variant report
Variant | esv3373662 |
---|---|
Chromosome Location | chr21:40955032-40957030 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs190507384 | chr21:40955039-40955040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs537003188 | chr21:40955045-40955046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs539711208 | chr21:40955072-40955073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs550225589 | chr21:40955084-40955085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs11700626 | chr21:40955085-40955086 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
6 | rs183046384 | chr21:40955123-40955124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs541842080 | chr21:40955125-40955126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs145238013 | chr21:40955131-40955132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs150946858 | chr21:40955150-40955151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs544325218 | chr21:40955152-40955153 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs11909032 | chr21:40955189-40955190 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs74902297 | chr21:40955190-40955191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs73904067 | chr21:40955239-40955240 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs186304096 | chr21:40955274-40955275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs11909036 | chr21:40955297-40955298 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs7364029 | chr21:40955328-40955329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs149658963 | chr21:40955332-40955333 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs568118260 | chr21:40955445-40955446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs530885564 | chr21:40955459-40955460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs551070979 | chr21:40955476-40955477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570892659 | chr21:40955505-40955506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs191163980 | chr21:40955518-40955519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs111280276 | chr21:40955549-40955550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs567161423 | chr21:40955612-40955613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs75091626 | chr21:40955614-40955615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs555353056 | chr21:40955649-40955650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs13050627 | chr21:40955684-40955685 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs537904533 | chr21:40955697-40955698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs200570399 | chr21:40955726-40955727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs35672871 | chr21:40955743-40955744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs139760040 | chr21:40955744-40955745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs367723719 | chr21:40955746-40955747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs116998856 | chr21:40955748-40955749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs200893155 | chr21:40955751-40955752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs376375690 | chr21:40955756-40955757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs369470474 | chr21:40955759-40955760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs150641062 | chr21:40955761-40955762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs370449972 | chr21:40955766-40955767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs373643831 | chr21:40955771-40955772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs371516493 | chr21:40955776-40955777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs371685705 | chr21:40955781-40955782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs375820988 | chr21:40955786-40955787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs368308117 | chr21:40955791-40955792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs372239351 | chr21:40955796-40955797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs377276063 | chr21:40955801-40955802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs369797867 | chr21:40955806-40955807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs371898628 | chr21:40955811-40955812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs374869254 | chr21:40955816-40955817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs13051114 | chr21:40955963-40955964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs578104430 | chr21:40955974-40955975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 16751803 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Down syndrome | 17412756 | CNVD |
Down syndrome | 17576883 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Seminomas | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 19156837 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Melanoma | 18172304 | CNVD |
Autism | 22958593 | CNVD |
Schizophrenia | 22958593 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Wilms tumour | 21544195 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Mental retardation | 21031080 | CNVD |
Polymicrogyria | 21031080 | CNVD |
periventricular nodular heterotopia | 21031080 | CNVD |
Myelodysplastic syndrome | 21606161 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Autism | 18414403 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Breast cancer | 21858162 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 17899364 | CNVD |
Down syndrome | 20877625 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Prostate cancer | 21147910 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 20473283 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 22522925 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 21509527 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr21:40948800-40959800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr21:40949400-40959000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |