Variant report

Variant	nsv962546
Chromosome Location	chr20:41349411-41355479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
2	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
3	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
4	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:

Extended variants
information (count: 260 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138721225	chr20:41349433-41349434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184846757	chr20:41349434-41349435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558632377	chr20:41349458-41349459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572059557	chr20:41349462-41349463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149338507	chr20:41349463-41349464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554344849	chr20:41349504-41349505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188557220	chr20:41349506-41349507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568575682	chr20:41349543-41349544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535865593	chr20:41349551-41349552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543265839	chr20:41349560-41349561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113697286	chr20:41349569-41349570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571579606	chr20:41349687-41349688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146033744	chr20:41349716-41349717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116189549	chr20:41349736-41349737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545692674	chr20:41349763-41349764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564980884	chr20:41349773-41349774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564314213	chr20:41349806-41349807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75385378	chr20:41349813-41349814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6016879	chr20:41349828-41349829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376237595	chr20:41349863-41349864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574284150	chr20:41349898-41349899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192915483	chr20:41349906-41349907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184561502	chr20:41349916-41349917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35112308	chr20:41349931-41349932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189277232	chr20:41350000-41350001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6103011	chr20:41350042-41350043	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532934772	chr20:41350050-41350051	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539381265	chr20:41350072-41350073	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552887141	chr20:41350082-41350083	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565697234	chr20:41350086-41350087	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111484290	chr20:41350114-41350115	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182022230	chr20:41350148-41350149	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146238269	chr20:41350152-41350153	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35560313	chr20:41350163-41350164	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537100722	chr20:41350200-41350201	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556786668	chr20:41350389-41350390	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576620783	chr20:41350413-41350414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148439766	chr20:41350414-41350415	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552828469	chr20:41350446-41350447	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59516627	chr20:41350488-41350489	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183544657	chr20:41350490-41350491	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs742419	chr20:41350560-41350561	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561296474	chr20:41350571-41350572	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530180558	chr20:41350600-41350601	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543924331	chr20:41350661-41350662	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188281048	chr20:41350678-41350679	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554200620	chr20:41350697-41350698	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534608194	chr20:41350726-41350727	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374121169	chr20:41350756-41350757	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6103012	chr20:41350758-41350759	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41339400-41350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41350000-41350600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:41350600-41351000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41351000-41359800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:41352200-41352600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:41355200-41356200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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