Variant report

Variant	nsv534638
Chromosome Location	chr5:45858833-45880709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199426	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553751478	chr5:45859400-45859401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553351112	chr5:45859404-45859405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116323555	chr5:45859406-45859407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542902386	chr5:45859446-45859447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561574945	chr5:45859465-45859466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369000119	chr5:45859484-45859485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544838763	chr5:45859486-45859487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142442031	chr5:45859489-45859490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185312949	chr5:45859493-45859494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190183134	chr5:45859500-45859501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560529230	chr5:45859503-45859504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181221840	chr5:45859518-45859519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372646913	chr5:45859522-45859523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546884191	chr5:45859543-45859544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115665121	chr5:45859544-45859545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186503239	chr5:45859552-45859553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73094297	chr5:45859583-45859584	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552459979	chr5:45859590-45859591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569455134	chr5:45859608-45859609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537938903	chr5:45859609-45859610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572402197	chr5:45859610-45859611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370313533	chr5:45859633-45859634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13174022	chr5:45859636-45859637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548741477	chr5:45859647-45859648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546217421	chr5:45859662-45859663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189723662	chr5:45859666-45859667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532506546	chr5:45859698-45859699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377303423	chr5:45859719-45859720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180949945	chr5:45859727-45859728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186291486	chr5:45859777-45859778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191077530	chr5:45859800-45859801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538948410	chr5:45859824-45859825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558452673	chr5:45859856-45859857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144690824	chr5:45859874-45859875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544015489	chr5:45859888-45859889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554288367	chr5:45859896-45859897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184071186	chr5:45859923-45859924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79520397	chr5:45859925-45859926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13158505	chr5:45859955-45859956	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs529819611	chr5:45859960-45859961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532665042	chr5:45859977-45859978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546502402	chr5:45859984-45859985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573466412	chr5:45860000-45860001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73094298	chr5:45860025-45860026	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548803381	chr5:45860028-45860029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568529195	chr5:45860030-45860031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114054546	chr5:45860036-45860037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111911563	chr5:45860038-45860039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547786051	chr5:45860049-45860050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560234303	chr5:45860051-45860052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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