Variant report

Variant	nsv1000209
Chromosome Location	chr2:49618801-49646785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545047223	chr2:49627408-49627409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551123879	chr2:49627476-49627477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189223017	chr2:49627477-49627478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140700481	chr2:49627483-49627484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552024798	chr2:49627491-49627492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193110317	chr2:49627523-49627524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533743950	chr2:49627531-49627532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554932039	chr2:49627554-49627555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182059021	chr2:49627556-49627557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186742009	chr2:49627575-49627576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555872706	chr2:49627588-49627589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556282669	chr2:49628803-49628804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148280530	chr2:49628845-49628846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545155501	chr2:49628859-49628860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554253926	chr2:49628866-49628867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7579825	chr2:49628870-49628871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188345351	chr2:49628879-49628880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542815387	chr2:49628884-49628885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs817039	chr2:49628886-49628887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531872902	chr2:49628898-49628899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141407314	chr2:49628916-49628917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564712175	chr2:49628933-49628934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555962992	chr2:49628967-49628968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150815957	chr2:49628969-49628970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565785125	chr2:49628974-49628975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs817040	chr2:49628993-49628994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554739825	chr2:49629239-49629240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376088936	chr2:49629250-49629251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561121202	chr2:49629251-49629252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191547662	chr2:49629281-49629282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565595988	chr2:49629289-49629290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183500581	chr2:49629306-49629307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35553986	chr2:49629342-49629343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541033338	chr2:49629367-49629368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138241283	chr2:49629416-49629417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572403913	chr2:49629422-49629423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199919950	chr2:49629473-49629474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398080234	chr2:49629482-49629483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397735508	chr2:49629483-49629484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186776910	chr2:49629488-49629489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190789665	chr2:49629495-49629496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142823568	chr2:49629509-49629510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183341477	chr2:49629516-49629517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538615177	chr2:49629542-49629543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561354531	chr2:49629545-49629546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536622610	chr2:49629561-49629562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553739076	chr2:49629562-49629563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146093750	chr2:49629569-49629570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562177304	chr2:49629584-49629585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536324174	chr2:49629594-49629595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49627400-49627600	Enhancers	Brain Germinal Matrix	brain
2	chr2:49628800-49629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:49629200-49630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:49630000-49631600	Enhancers	Brain Germinal Matrix	brain
5	chr2:49630400-49631200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:49630400-49631400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:49630400-49632400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:49630600-49632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:49630600-49632200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:49630600-49632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:49630800-49631600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:49630800-49632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:49630800-49632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:49631200-49631600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:49631400-49631800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:49631600-49632000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:49631800-49632000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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