Variant report
Variant | esv3351321 |
---|---|
Chromosome Location | chr10:5211216-5211528 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr10:5210740..5212996-chr10:5319959..5322251,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs529712463 | chr10:5211289-5211290 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs547858870 | chr10:5211290-5211291 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs4881409 | chr10:5211300-5211301 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs571622754 | chr10:5211309-5211310 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs1984110 | chr10:5211310-5211311 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569444780 | chr10:5211314-5211315 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs537236785 | chr10:5211348-5211349 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs552357737 | chr10:5211352-5211353 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs187523743 | chr10:5211353-5211354 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs535023583 | chr10:5211378-5211379 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553304422 | chr10:5211381-5211382 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs568344376 | chr10:5211383-5211384 | Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs73601895 | chr10:5211401-5211402 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs556439979 | chr10:5211410-5211411 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs557483612 | chr10:5211434-5211435 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs369289035 | chr10:5211447-5211448 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs543593324 | chr10:5211494-5211495 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs184204958 | chr10:5211500-5211501 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs577030298 | chr10:5211505-5211506 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs77404915 | chr10:5211511-5211512 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532757111 | chr10:5211512-5211513 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs199627254 | chr10:5211513-5211514 | Bivalent Enhancer Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Sudden cardiac death | 19188705 | CNVD |
Digeorge syndrome | 22283845 | CNVD |
Cancer | 21129771 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Wilms tumour | 19047088 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21183584 | CNVD |
Barakat syndrome | 22470819 | CNVD |
Melanoma | 18172304 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Autism | 18414403 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Breast cancer | 22032731 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Melanoma | 17363583 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Oral cancer | 21386901 | CNVD |
Breast cancer | 21785460 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:5209600-5211400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
2 | chr10:5210400-5211400 | Enhancers | HepG2 | liver |
3 | chr10:5210400-5212800 | Strong transcription | Liver | Liver |
4 | chr10:5210800-5211400 | Enhancers | A549 | lung |
5 | chr10:5211000-5211400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr10:5211000-5211600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr10:5211200-5211400 | Bivalent Enhancer | iPS DF 6.9 Cell Line | embryonic stem cell |
8 | chr10:5211200-5211400 | Flanking Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
9 | chr10:5211200-5211400 | Bivalent Enhancer | Sigmoid Colon | Sigmoid Colon |
10 | chr10:5211200-5211600 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
11 | chr10:5211200-5211600 | Enhancers | Duodenum Mucosa | Duodenum |