Variant report
Variant | esv3340760 |
---|---|
Chromosome Location | chr9:115849156-115851704 |
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 | rs181983740 | chr9:115851071-115851072 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
2 | rs145422736 | chr9:115851072-115851073 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185863539 | chr9:115851080-115851081 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
4 | rs202078564 | chr9:115851082-115851083 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
5 | rs537269050 | chr9:115851118-115851119 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
6 | rs372950137 | chr9:115851125-115851126 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
7 | rs557639322 | chr9:115851135-115851136 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
8 | rs200409803 | chr9:115851146-115851147 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
9 | rs62574451 | chr9:115851162-115851163 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
10 | rs552936578 | chr9:115851164-115851165 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
11 | rs200924866 | chr9:115851200-115851201 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs572796973 | chr9:115851226-115851227 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs202138898 | chr9:115851231-115851232 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs544979282 | chr9:115851243-115851244 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs564668126 | chr9:115851265-115851266 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs544417442 | chr9:115851281-115851282 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs114625244 | chr9:115851288-115851289 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs200461711 | chr9:115851290-115851291 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs530428120 | chr9:115851292-115851293 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs79341835 | chr9:115851310-115851311 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs375250544 | chr9:115851315-115851316 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190518544 | chr9:115851324-115851325 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs201701195 | chr9:115851327-115851328 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs560832487 | chr9:115851346-115851347 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532437089 | chr9:115851354-115851355 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs552581413 | chr9:115851389-115851390 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs371380534 | chr9:115851402-115851403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs376026558 | chr9:115851508-115851509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs199634825 | chr9:115851560-115851561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs528237093 | chr9:115851572-115851573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs375211839 | chr9:115851573-115851574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs550803114 | chr9:115851591-115851592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574994338 | chr9:115851593-115851594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs567420693 | chr9:115851597-115851598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs367837762 | chr9:115851623-115851624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs1819430 | chr9:115851626-115851627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536442935 | chr9:115851665-115851666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Medulloblastoma | 21979893 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Autism | 22495311 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 16751803 | CNVD |
Myelofibrosis | 22110671 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Leukemia | 17361228 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Glioblastoma | 16823260 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Brain cancer | 20823417 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Heart disease | 21282601 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 18632612 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Gastric cancer | 17908304 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cardiac fibroma | 18329553 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Breast cancer | 21364760 | CNVD |
Developmental delay | 21147756 | CNVD |
Lung cancer | 19147751 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 22522925 | CNVD |
Melanoma | 20877625 | CNVD |
Bladder cancer | 21909424 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:115851000-115851200 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
2 | chr9:115851000-115851400 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
3 | chr9:115851000-115851400 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
4 | chr9:115851200-115851400 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
5 | chr9:115851200-115851400 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
6 | chr9:115851200-115851400 | Bivalent Enhancer | Fetal Stomach | stomach |
7 | chr9:115851200-115851400 | Bivalent Enhancer | Ovary | ovary |
8 | chr9:115851200-115851400 | Enhancers | Pancreas | Pancrea |
9 | chr9:115851200-115851400 | Bivalent Enhancer | Placenta Amnion | Placenta Amnion |
10 | chr9:115851400-115852200 | Weak transcription | Pancreas | Pancrea |