Variant report
Variant | nsv1035877 |
---|---|
Chromosome Location | chr11:41818154-41838190 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:18)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:4)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:18 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr11:41837647-41837674 | GM20000 | blood: | n/a | n/a |
2 | E2F4 | chr11:41820675-41820809 | MCF10A-Er-Src | breast: | n/a | n/a |
3 | GATA3 | chr11:41822786-41822980 | SH-SY5Y | brain: | n/a | n/a |
4 | MAFK | chr11:41829912-41830155 | HepG2 | liver: | n/a | n/a |
5 | MAZ | chr11:41822151-41822191 | HepG2 | liver: | n/a | n/a |
6 | POLR2A | chr11:41820939-41820947 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | POLR2A | chr11:41823373-41823573 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | POLR2A | chr11:41830567-41830666 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | POLR2A | chr11:41822414-41822519 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | POLR2A | chr11:41833490-41834127 | MCF10A-Er-Src | breast: | n/a | n/a |
11 | POLR2A | chr11:41820084-41820089 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | POLR2A | chr11:41834821-41834898 | MCF10A-Er-Src | breast: | n/a | n/a |
13 | POLR2A | chr11:41836602-41836673 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | POLR2A | chr11:41822699-41822802 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | SETDB1 | chr11:41835576-41835974 | U2OS | brain: | n/a | n/a |
16 | STAT3 | chr11:41832021-41832282 | MCF10A-Er-Src | breast: | n/a | n/a |
17 | STAT3 | chr11:41825568-41825624 | MCF10A-Er-Src | breast: | n/a | n/a |
18 | STAT3 | chr11:41824236-41824405 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
(count:2 , 50 per page) page:
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(count:4 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-API5-10 | chr11:41819093-41819514 | NONHSAT018894 |
2 | lnc-API5-5 | chr11:41830517-41830633 | NONHSAT018895 |
3 | lnc-API5-5 | chr11:41830517-41830633 | ENSG00000255171.1 |
4 | lnc-API5-5 | chr11:41830600-41830633 | XLOC_009112 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254668 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs567324455 | chr11:41819109-41819110 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs189676218 | chr11:41819125-41819126 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs72470874 | chr11:41819134-41819135 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs398097498 | chr11:41819140-41819141 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs12285434 | chr11:41819147-41819148 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs575341271 | chr11:41819185-41819186 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs542345650 | chr11:41819222-41819223 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs532315708 | chr11:41819325-41819326 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs79028250 | chr11:41819330-41819331 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs114445399 | chr11:41819352-41819353 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs565247820 | chr11:41819367-41819368 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs532619726 | chr11:41819379-41819380 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs142291934 | chr11:41819399-41819400 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs562930032 | chr11:41819409-41819410 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs151242422 | chr11:41819477-41819478 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs373507798 | chr11:41819528-41819529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs1385379 | chr11:41819536-41819537 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs568767884 | chr11:41819544-41819545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs140432887 | chr11:41819546-41819547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs182688327 | chr11:41819551-41819552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs188148288 | chr11:41819579-41819580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs373954743 | chr11:41819593-41819594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs2862305 | chr11:41819646-41819647 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs554915416 | chr11:41819651-41819652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs544371943 | chr11:41819652-41819653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs568484022 | chr11:41819683-41819684 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs538927708 | chr11:41819764-41819765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs534279284 | chr11:41819765-41819766 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs145905080 | chr11:41819776-41819777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs57081046 | chr11:41819789-41819790 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs536419138 | chr11:41819807-41819808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201815074 | chr11:41819825-41819826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs4756671 | chr11:41819828-41819829 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs572564192 | chr11:41819940-41819941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs539847709 | chr11:41819960-41819961 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs191642576 | chr11:41819967-41819968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs10837728 | chr11:41820006-41820007 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs544487756 | chr11:41820019-41820020 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs11036563 | chr11:41820034-41820035 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs530250404 | chr11:41820104-41820105 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs138457568 | chr11:41820117-41820118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs560390992 | chr11:41820140-41820141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs183594432 | chr11:41820158-41820159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs552645819 | chr11:41820180-41820181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs10768743 | chr11:41820200-41820201 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs532476502 | chr11:41820228-41820229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs543878538 | chr11:41820229-41820230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs368301877 | chr11:41820247-41820248 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs141352591 | chr11:41820256-41820257 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs188967621 | chr11:41820275-41820276 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Medulloblastoma | 16783165 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Breast cancer | 17603634 | CNVD |
Chordoma | 18071362 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 20603712 | CNVD |
Autism | 17322880 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Cancer | 20164919 | CNVD |
Gastric cancer | 18160780 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:41819200-41822000 | Enhancers | Fetal Intestine Small | intestine |
2 | chr11:41820400-41822200 | Enhancers | Fetal Intestine Large | intestine |
3 | chr11:41821000-41822000 | Enhancers | Duodenum Mucosa | Duodenum |
4 | chr11:41821200-41822000 | Enhancers | Rectal Mucosa Donor 31 | rectum |
5 | chr11:41822000-41825800 | Weak transcription | Fetal Intestine Small | intestine |
6 | chr11:41825800-41826000 | ZNF genes & repeats | Fetal Intestine Small | intestine |
7 | chr11:41834800-41835400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |