Variant report
Variant | nsv900736 |
---|---|
Chromosome Location | chr13:86429834-86529275 |
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 | chr13:85418682..85419230-chr13:86438823..86439343,2 | 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 | rs79583663 | chr13:86434610-86434611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs143285973 | chr13:86434636-86434637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs147513814 | chr13:86434667-86434668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs34750533 | chr13:86434689-86434690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs186147965 | chr13:86434694-86434695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs537634574 | chr13:86434695-86434696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs575808545 | chr13:86434699-86434700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs536306805 | chr13:86434769-86434770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs556010676 | chr13:86434775-86434776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574963972 | chr13:86439207-86439208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs71440202 | chr13:86439227-86439228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs530219449 | chr13:86439411-86439412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187274491 | chr13:86439413-86439414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs554259777 | chr13:86439419-86439420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs191165701 | chr13:86439486-86439487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs146935955 | chr13:86439533-86439534 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs548795508 | chr13:86439564-86439565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs9602858 | chr13:86439593-86439594 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs532123991 | chr13:86439595-86439596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs77436016 | chr13:86439647-86439648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs544213524 | chr13:86439682-86439683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs562779235 | chr13:86439710-86439711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs529933136 | chr13:86439749-86439750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs181483787 | chr13:86439756-86439757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566978252 | chr13:86439797-86439798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs2094750 | chr13:86439816-86439817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs552632340 | chr13:86439821-86439822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs570792810 | chr13:86439822-86439823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs186171595 | chr13:86439834-86439835 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs200073880 | chr13:86439836-86439837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs190056989 | chr13:86439859-86439860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs183305965 | chr13:86439952-86439953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs569337689 | chr13:86444624-86444625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs536654492 | chr13:86444738-86444739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs554953284 | chr13:86444751-86444752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9566111 | chr13:86444806-86444807 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs534264487 | chr13:86444836-86444837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs542976809 | chr13:86444866-86444867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs377361286 | chr13:86444888-86444889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs577394124 | chr13:86445006-86445007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs368944648 | chr13:86445015-86445016 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs9531870 | chr13:86445074-86445075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs372078988 | chr13:86445089-86445090 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs181894888 | chr13:86445123-86445124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs60609565 | chr13:86445128-86445129 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs557957521 | chr13:86445164-86445165 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs117092654 | chr13:86445237-86445238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs369791367 | chr13:86445239-86445240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs542312084 | chr13:86445250-86445251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs560591315 | chr13:86445272-86445273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Prostate cancer | 16573809 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
abnormal development | 18461090 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 21965145 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Developmental delay | 19490664 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Cancer | 21220470 | CNVD |
Cancer | 21183584 | CNVD |
Omodysplasia | 19481194 | CNVD |
Breast cancer | 22032731 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Cancer | 17160897 | CNVD |
Mantle cell lymphoma | 19690137 | CNVD |
Rhabdomyosarcoma | 17210683 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Breast cancer | 21364760 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:86434600-86434800 | Enhancers | Brain Hippocampus Middle | brain |
2 | chr13:86439200-86439800 | Enhancers | HMEC | breast |
3 | chr13:86439200-86440000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
4 | chr13:86439600-86440000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr13:86444600-86445400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
6 | chr13:86461400-86462000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr13:86461400-86462400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
8 | chr13:86470200-86471400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr13:86470200-86471600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
10 | chr13:86470200-86471600 | Enhancers | HMEC | breast |
11 | chr13:86470200-86471600 | Enhancers | NHEK | skin |
12 | chr13:86470400-86471200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
13 | chr13:86474200-86475000 | Enhancers | Liver | Liver |
14 | chr13:86479600-86483400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
15 | chr13:86480400-86480800 | Enhancers | Fetal Heart | heart |
16 | chr13:86483400-86483600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr13:86483600-86491600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
18 | chr13:86491600-86493000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
19 | chr13:86491800-86492000 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
20 | chr13:86493000-86493800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
21 | chr13:86504000-86505000 | Enhancers | Liver | Liver |
22 | chr13:86504200-86504600 | Enhancers | HepG2 | liver |
23 | chr13:86509200-86512400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
24 | chr13:86528400-86528800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |