Variant report
Variant | nsv977733 |
---|---|
Chromosome Location | chr15:73189238-73192771 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:19)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:19 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr15:73189135-73189307 | A549 | lung: | n/a | n/a |
2 | CTCF | chr15:73192040-73192190 | GM12878 | blood: | n/a | chr15:73192168-73192177 |
3 | CTCF | chr15:73192020-73192170 | GM12865 | blood: | n/a | n/a |
4 | CTCF | chr15:73192100-73192250 | GM12867 | blood: | n/a | chr15:73192168-73192177 |
5 | CTCF | chr15:73192100-73192250 | GM06990 | blood: | n/a | chr15:73192168-73192177 |
6 | HEY1 | chr15:73192478-73192700 | K562 | blood: | n/a | n/a |
7 | HEY1 | chr15:73192487-73192636 | K562 | blood: | n/a | n/a |
8 | POLR2A | chr15:73192372-73192672 | GM12878 | blood: | n/a | n/a |
9 | POLR2A | chr15:73192519-73192611 | GM12878 | blood: | n/a | n/a |
10 | POLR2A | chr15:73192389-73192664 | GM12892 | blood: | n/a | n/a |
11 | POLR2A | chr15:73192509-73192621 | Hela-S3 | cervix: | n/a | n/a |
12 | POLR2A | chr15:73192561-73192652 | A549 | lung: | n/a | n/a |
13 | POLR2A | chr15:73192362-73192676 | GM12892 | blood: | n/a | n/a |
14 | POLR2A | chr15:73192509-73192619 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | SPI1 | chr15:73191990-73192308 | GM12891 | blood: | n/a | chr15:73192207-73192220 |
16 | SPI1 | chr15:73192132-73192234 | GM12878 | blood: | n/a | chr15:73192207-73192220 |
17 | SPI1 | chr15:73192108-73192339 | GM12878 | blood: | n/a | chr15:73192207-73192220 |
18 | SPI1 | chr15:73192012-73192323 | GM12891 | blood: | n/a | chr15:73192207-73192220 |
19 | ZNF384 | chr15:73190492-73190527 | GM12878 | blood: | n/a | n/a |
No data |
No data |
(count:3 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-NEO1-3 | chr15:73191422-73192693 | NONHSAT047129 |
2 | lnc-ADPGK-3 | chr15:73191740-73192601 | NONHSAT047131 |
3 | lnc-ADPGK-3 | chr15:73191425-73192691 | NONHSAT047130 |
No data |
No data |
Variant related genes | Relation type |
---|---|
NPM1P42 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs74021552 | chr15:73189249-73189250 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs547005405 | chr15:73189253-73189254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs184718821 | chr15:73189262-73189263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs372788663 | chr15:73189266-73189267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs556900427 | chr15:73189334-73189335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569064120 | chr15:73189355-73189356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs117874784 | chr15:73189363-73189364 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs572897958 | chr15:73189384-73189385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs137878063 | chr15:73189397-73189398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555596679 | chr15:73189424-73189425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs189997252 | chr15:73189433-73189434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs544761430 | chr15:73189463-73189464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs562917505 | chr15:73189465-73189466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs397746831 | chr15:73189472-73189473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs72737395 | chr15:73189644-73189645 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs117331190 | chr15:73189674-73189675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs564177030 | chr15:73189692-73189693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs528051033 | chr15:73189693-73189694 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs557975742 | chr15:73189713-73189714 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs143096866 | chr15:73189718-73189719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs548879889 | chr15:73189747-73189748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs78387265 | chr15:73189750-73189751 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146146609 | chr15:73189783-73189784 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs550884971 | chr15:73189789-73189790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs568948186 | chr15:73189793-73189794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs539666396 | chr15:73189810-73189811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181811207 | chr15:73189823-73189824 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs376311047 | chr15:73189829-73189830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs138929656 | chr15:73189843-73189844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs35654536 | chr15:73189902-73189903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs566630708 | chr15:73189949-73189950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs566997475 | chr15:73189964-73189965 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs533895807 | chr15:73189997-73189998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs555360555 | chr15:73190088-73190089 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs143713131 | chr15:73190132-73190133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs149408312 | chr15:73190143-73190144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs62017651 | chr15:73190155-73190156 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs187356205 | chr15:73190161-73190162 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs56264189 | chr15:73190169-73190170 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs545627772 | chr15:73190194-73190195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs189386740 | chr15:73190219-73190220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572998668 | chr15:73190244-73190245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs540359587 | chr15:73190253-73190254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs561512979 | chr15:73190289-73190290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs528922177 | chr15:73190312-73190313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs181836222 | chr15:73190322-73190323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs562801704 | chr15:73190345-73190346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs76885993 | chr15:73190350-73190351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs144764986 | chr15:73190403-73190404 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs55993792 | chr15:73190409-73190410 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Schizophrenia | 19415332 | CNVD |
Breast cancer | 22522925 | CNVD |
Wilms tumour | 21544195 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
cataract | 16735990 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Medulloblastoma | 21979893 | CNVD |
spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
Schizophrenia | 21324950 | CNVD |
Astrocytoma | 17387387 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Disease | 21824424 | CNVD |
Melanoma | 18172304 | CNVD |
Gastric cancer | 17167181 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Intellectual disability | 22102821 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Cancer | 16751803 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 17133270 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Prostate cancer | 16573809 | CNVD |
Autism | 17322880 | CNVD |
phobic disorder | 16773131 | CNVD |
Autism | 21480499 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Mental retardation | 19951919 | CNVD |
Mental retardation | 16773131 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
15q24 microdeletion syndrome | 22180641 | CNVD |
15q24 microdeletion syndrome | 19921647 | CNVD |
Disease | 22216833 | CNVD |
Mental retardation | 17360722 | CNVD |
15q24 microdeletion syndrome | 22216833 | CNVD |
15q24 microdeletion syndrome | 22283845 | CNVD |
Developmental delay | 17932688 | CNVD |
craniofacial dysmorphism | 17932688 | CNVD |
digital and genital abnormalities | 17932688 | CNVD |
Mental retardation | 17621639 | CNVD |
Autism | 20808228 | CNVD |
Breast cancer | 21364760 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Epilepsy | 22083797 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:73188600-73190200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr15:73190200-73190400 | Enhancers | Aorta | Aorta |
3 | chr15:73190400-73192200 | Weak transcription | Aorta | Aorta |
4 | chr15:73190400-73194000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
5 | chr15:73192000-73193800 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
6 | chr15:73192200-73192400 | Enhancers | Aorta | Aorta |
7 | chr15:73192400-73193200 | Weak transcription | Aorta | Aorta |