Variant report

Variant	nsv526661
Chromosome Location	chr2:34519194-34532515
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	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
2	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386

Extended variants
information (count: 103 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76977084	chr2:34519201-34519202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556151622	chr2:34519206-34519207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189661018	chr2:34519214-34519215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113193521	chr2:34519273-34519274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560799833	chr2:34519274-34519275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558662816	chr2:34519277-34519278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572139412	chr2:34519282-34519283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149916366	chr2:34519327-34519328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12465251	chr2:34519344-34519345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574211082	chr2:34519401-34519402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144947475	chr2:34519408-34519409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181028080	chr2:34519422-34519423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531577900	chr2:34519435-34519436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73928247	chr2:34519436-34519437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6728480	chr2:34519448-34519449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527829462	chr2:34519522-34519523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547225805	chr2:34519536-34519537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114433713	chr2:34519566-34519567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529980059	chr2:34519613-34519614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149048451	chr2:34519622-34519623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73928248	chr2:34519625-34519626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185893088	chr2:34519645-34519646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376106727	chr2:34519720-34519721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12613086	chr2:34519779-34519780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565593065	chr2:34519796-34519797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76376945	chr2:34519801-34519802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534724818	chr2:34519803-34519804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6743914	chr2:34519806-34519807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144425630	chr2:34519894-34519895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9308949	chr2:34519922-34519923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556427170	chr2:34519927-34519928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375554294	chr2:34519929-34519930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377589915	chr2:34519931-34519932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375394654	chr2:34519932-34519933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs70940243	chr2:34519933-34519934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575112008	chr2:34519941-34519942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386389901	chr2:34519943-34519944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397984277	chr2:34519947-34519948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576372150	chr2:34519958-34519959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11897172	chr2:34519983-34519984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548694317	chr2:34519992-34519993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565282724	chr2:34520010-34520011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527740466	chr2:34520014-34520015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541529415	chr2:34520047-34520048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570042423	chr2:34520057-34520058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147816506	chr2:34520076-34520077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112595039	chr2:34520084-34520085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550034785	chr2:34520115-34520116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190461540	chr2:34520123-34520124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114463679	chr2:34520152-34520153	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34519200-34520400	Enhancers	Fetal Lung	lung
2	chr2:34528200-34528600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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