Variant report

Variant	nsv1052280
Chromosome Location	chr15:53770847-53784888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
2	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
3	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
4	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
5	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:

Extended variants
information (count: 505 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559248770	chr15:53772205-53772206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77728478	chr15:53772206-53772207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1516418	chr15:53772230-53772231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376054310	chr15:53772246-53772247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562111551	chr15:53772295-53772296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374132230	chr15:53772305-53772306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551127860	chr15:53772313-53772314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140183978	chr15:53772315-53772316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539519159	chr15:53772395-53772396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547184994	chr15:53772421-53772422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs594893	chr15:53772431-53772432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536194405	chr15:53772459-53772460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60517427	chr15:53772466-53772467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183238099	chr15:53772539-53772540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187409352	chr15:53772607-53772608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374117030	chr15:53772643-53772644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561700753	chr15:53772667-53772668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12442157	chr15:53772669-53772670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367670524	chr15:53772677-53772678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369129352	chr15:53772678-53772679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141795396	chr15:53772679-53772680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74015677	chr15:53772681-53772682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556511856	chr15:53772709-53772710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558497619	chr15:53772711-53772712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576546891	chr15:53772715-53772716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3081129	chr15:53772716-53772717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199621209	chr15:53772717-53772718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77664738	chr15:53772729-53772730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559502142	chr15:53772739-53772740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572948604	chr15:53772756-53772757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191800015	chr15:53772793-53772794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183573316	chr15:53772800-53772801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151078475	chr15:53772841-53772842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188154970	chr15:53772845-53772846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs669407	chr15:53772875-53772876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149791517	chr15:53772949-53772950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368084313	chr15:53772991-53772992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567096748	chr15:53773014-53773015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529452494	chr15:53773033-53773034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201193322	chr15:53773078-53773079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191838901	chr15:53773081-53773082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569232634	chr15:53773097-53773098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538115830	chr15:53773159-53773160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556550271	chr15:53773192-53773193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145718098	chr15:53773253-53773254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199847139	chr15:53773255-53773256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17548491	chr15:53773265-53773266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182123244	chr15:53773329-53773330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532995108	chr15:53773389-53773390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573026352	chr15:53773454-53773455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53772200-53773400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:53773400-53777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:53775200-53776000	Enhancers	HepG2	liver
4	chr15:53777000-53777600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:53777200-53777600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:53777600-53778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:53777600-53779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:53778800-53779800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:53779400-53779800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:53779800-53782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:53779800-53783000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:53780200-53785000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:53782200-53783200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:53783000-53783600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:53783200-53783400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:53783400-53783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:53783600-53784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:53784800-53786800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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