Variant report

Variant	nsv1059955
Chromosome Location	chr20:41250407-41269430
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	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009307	chromatin interactions

Extended variants
information (count: 862 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7360934	chr20:41250407-41250408	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573741371	chr20:41250436-41250437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180989433	chr20:41250460-41250461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7360961	chr20:41250516-41250517	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138276104	chr20:41250531-41250532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375048599	chr20:41250544-41250545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368878626	chr20:41250601-41250602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186166766	chr20:41250605-41250606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79645011	chr20:41250650-41250651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557237343	chr20:41250653-41250654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571008313	chr20:41250685-41250686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191455087	chr20:41250686-41250687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553626850	chr20:41250695-41250696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572515094	chr20:41250714-41250715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183172758	chr20:41250746-41250747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555065653	chr20:41250766-41250767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186076336	chr20:41250774-41250775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544281738	chr20:41250780-41250781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564156992	chr20:41250845-41250846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544850505	chr20:41250859-41250860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368250330	chr20:41250886-41250887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397865271	chr20:41250899-41250900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6102954	chr20:41250904-41250905	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190744136	chr20:41250943-41250944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6102955	chr20:41250945-41250946	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566933274	chr20:41250950-41250951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535891200	chr20:41250974-41250975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568582215	chr20:41250982-41250983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149192635	chr20:41250984-41250985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551031966	chr20:41250992-41250993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372238406	chr20:41251028-41251029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571003268	chr20:41251030-41251031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539982839	chr20:41251032-41251033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6102956	chr20:41251041-41251042	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560752276	chr20:41251061-41251062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111611957	chr20:41251070-41251071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554980243	chr20:41251080-41251081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575157156	chr20:41251082-41251083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145653394	chr20:41251094-41251095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138198962	chr20:41251170-41251171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183312675	chr20:41251176-41251177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540373397	chr20:41251192-41251193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560470521	chr20:41251271-41251272	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11699599	chr20:41251276-41251277	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187943412	chr20:41251323-41251324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527724834	chr20:41251329-41251330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562091397	chr20:41251332-41251333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17747999	chr20:41251364-41251365	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs192203995	chr20:41251373-41251374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564558310	chr20:41251400-41251401	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:41251400-41253800	Enhancers	NHEK	skin
3	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:41257000-41258200	Enhancers	Liver	Liver
8	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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