Variant report

Variant	nsv586026
Chromosome Location	chr20:41261444-41297693
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	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
2	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:

Extended variants
information (count: 1490 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1490 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6016855	chr20:41261444-41261445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533491910	chr20:41261457-41261458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371605224	chr20:41261514-41261515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184924069	chr20:41261535-41261536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375053780	chr20:41261601-41261602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528833414	chr20:41261610-41261611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149813297	chr20:41261667-41261668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145767943	chr20:41261680-41261681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73110421	chr20:41261797-41261798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148525152	chr20:41261818-41261819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190115289	chr20:41261819-41261820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568398926	chr20:41261835-41261836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543086841	chr20:41261858-41261859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35904902	chr20:41261992-41261993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6093707	chr20:41262015-41262016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115686945	chr20:41262019-41262020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181809796	chr20:41262053-41262054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553370960	chr20:41262059-41262060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544295320	chr20:41262065-41262066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371866013	chr20:41262075-41262076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562857585	chr20:41262095-41262096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76415026	chr20:41262119-41262120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142819635	chr20:41262152-41262153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148527507	chr20:41262163-41262164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72281445	chr20:41262164-41262165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34482367	chr20:41262166-41262167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112490346	chr20:41262310-41262311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528895337	chr20:41262334-41262335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13042438	chr20:41262399-41262400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369244806	chr20:41262425-41262426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112780844	chr20:41262426-41262427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111600382	chr20:41262427-41262428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62203830	chr20:41262448-41262449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370259695	chr20:41262454-41262455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373675864	chr20:41262456-41262457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12480113	chr20:41262458-41262459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6102963	chr20:41262460-41262461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559979029	chr20:41262522-41262523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190932260	chr20:41262532-41262533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182011373	chr20:41262542-41262543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147662044	chr20:41262545-41262546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185061991	chr20:41262553-41262554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28405895	chr20:41262561-41262562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189819027	chr20:41262582-41262583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183204986	chr20:41262593-41262594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28479885	chr20:41262601-41262602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7360716	chr20:41262603-41262604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111308039	chr20:41262618-41262619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188039034	chr20:41262625-41262626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58406859	chr20:41262630-41262631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
5	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:41281000-41281400	Enhancers	Gastric	stomach
12	chr20:41281200-41281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:41281400-41285600	Weak transcription	Gastric	stomach
14	chr20:41284200-41285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:41285000-41285400	Enhancers	Fetal Heart	heart
16	chr20:41285600-41286200	Enhancers	Gastric	stomach
17	chr20:41295800-41296600	Enhancers	Gastric	stomach

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