Variant report

Variant	nsv586007
Chromosome Location	chr20:41174105-41185524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
2	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
3	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
4	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
5	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:

Extended variants
information (count: 427 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6065509	chr20:41174105-41174106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561604302	chr20:41174122-41174123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562326699	chr20:41174160-41174161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548636216	chr20:41174292-41174293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377525974	chr20:41174301-41174302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544384935	chr20:41174328-41174329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564381945	chr20:41174329-41174330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376207483	chr20:41174386-41174387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35783196	chr20:41174400-41174401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189635070	chr20:41174411-41174412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537365774	chr20:41174453-41174454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79762198	chr20:41174521-41174522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6072787	chr20:41174545-41174546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528461407	chr20:41174547-41174548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375361017	chr20:41174569-41174570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573674295	chr20:41174597-41174598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530939544	chr20:41174631-41174632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2064676	chr20:41174671-41174672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568434741	chr20:41174681-41174682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2064677	chr20:41174693-41174694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs181632133	chr20:41174707-41174708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570815535	chr20:41174717-41174718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552644839	chr20:41174753-41174754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539793029	chr20:41174829-41174830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6072788	chr20:41174871-41174872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112282876	chr20:41174882-41174883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572822758	chr20:41174907-41174908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535076221	chr20:41174926-41174927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148201887	chr20:41174934-41174935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575205768	chr20:41174962-41174963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115753694	chr20:41174966-41174967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564319343	chr20:41174978-41174979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186767907	chr20:41175001-41175002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540566354	chr20:41175029-41175030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372296574	chr20:41175031-41175032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560167364	chr20:41175071-41175072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528509799	chr20:41175117-41175118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552835594	chr20:41175119-41175120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34198393	chr20:41175120-41175121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397864987	chr20:41175129-41175130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141144454	chr20:41175155-41175156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562221097	chr20:41175171-41175172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116142587	chr20:41175195-41175196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550661015	chr20:41175210-41175211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150707506	chr20:41175234-41175235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73102441	chr20:41175260-41175261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192068945	chr20:41175304-41175305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567016686	chr20:41175353-41175354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183200650	chr20:41175354-41175355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570972033	chr20:41175383-41175384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	22014070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41173000-41174200	Enhancers	Pancreas	Pancrea
2	chr20:41173000-41174400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:41173600-41174200	Enhancers	Gastric	stomach
4	chr20:41174200-41178000	Weak transcription	Pancreas	Pancrea
5	chr20:41178200-41178400	Enhancers	Brain Germinal Matrix	brain
6	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
8	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
9	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
10	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
11	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
13	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
14	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr20:41182400-41182600	Enhancers	Right Atrium	heart
16	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
17	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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