Variant report
Variant | nsv971911 |
---|---|
Chromosome Location | chr10:54922353-54950931 |
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 | rs554360604 | chr10:54922355-54922356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs557378028 | chr10:54922376-54922377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576430650 | chr10:54922462-54922463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs542140243 | chr10:54922507-54922508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs182937853 | chr10:54922602-54922603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs4626987 | chr10:54922642-54922643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs144247824 | chr10:54922651-54922652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs564048223 | chr10:54922657-54922658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs150122843 | chr10:54922681-54922682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs372027885 | chr10:54922687-54922688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs533009734 | chr10:54922702-54922703 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs543046536 | chr10:54922717-54922718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs562943446 | chr10:54922719-54922720 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs560289362 | chr10:54922727-54922728 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs377400602 | chr10:54922733-54922734 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs549275476 | chr10:54922734-54922735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565985808 | chr10:54922744-54922745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs369179913 | chr10:54922775-54922776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs544635498 | chr10:54922781-54922782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs7073495 | chr10:54922812-54922813 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs7076961 | chr10:54922883-54922884 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs192071844 | chr10:54922902-54922903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs184469281 | chr10:54922903-54922904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116273659 | chr10:54922926-54922927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs2384119 | chr10:54922949-54922950 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs536605857 | chr10:54922979-54922980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs555699844 | chr10:54922993-54922994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs146576511 | chr10:54923023-54923024 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs534533438 | chr10:54923042-54923043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs74134879 | chr10:54923075-54923076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs7077265 | chr10:54923099-54923100 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs543105664 | chr10:54923126-54923127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs370887663 | chr10:54923138-54923139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs531733178 | chr10:54923141-54923142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs149514077 | chr10:54934000-54934001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs544105957 | chr10:54934001-54934002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs563782371 | chr10:54934068-54934069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs75709135 | chr10:54934090-54934091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372449845 | chr10:54934098-54934099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs372735558 | chr10:54934110-54934111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs12249831 | chr10:54934122-54934123 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs78886051 | chr10:54934125-54934126 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs77836553 | chr10:54934144-54934145 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs372987453 | chr10:54934205-54934206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs369275020 | chr10:54934240-54934241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs530877722 | chr10:54934262-54934263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs550074440 | chr10:54934272-54934273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs569819438 | chr10:54934304-54934305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs114205883 | chr10:54934313-54934314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs375168325 | chr10:54934331-54934332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Melanoma | 18172304 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 18414403 | CNVD |
Cockayne syndrome | 18421352 | CNVD |
Glioblastoma | 16823260 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Neuroblastoma | 17533364 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Glioma | 21971842 | CNVD |
Cancer | 21637783 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Obesity | 21956041 | CNVD |
Developmental delay | 21948486 | CNVD |
Dysmorphic features | 21948486 | CNVD |
Epilepsy | 21948486 | CNVD |
Intellectual disability | 21948486 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Autism | 20841430 | CNVD |
Mental retardation | 17124404 | CNVD |
Epilepsy | 20923578 | CNVD |
Prostate cancer | 16573809 | CNVD |
Schizophrenia | 19329560 | CNVD |
Heart failure | 18772530 | CNVD |
Heart failure | 18854381 | CNVD |
Hyperglycemia | 19060297 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Usher syndrome | 20538994 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autism | 20858243 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:54922000-54922600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
2 | chr10:54922600-54923200 | Enhancers | Liver | Liver |
3 | chr10:54934000-54934400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
4 | chr10:54934000-54934400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
5 | chr10:54935000-54935200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr10:54936800-54938000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |