Variant report

Variant	nsv581908
Chromosome Location	chr2:51926599-51934748
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	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:

Extended variants
information (count: 375 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11563267	chr2:51926599-51926600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550550386	chr2:51926604-51926605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142216154	chr2:51926607-51926608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532776339	chr2:51926618-51926619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12998531	chr2:51926643-51926644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188380819	chr2:51926656-51926657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368588242	chr2:51926663-51926664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191351902	chr2:51926664-51926665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534856293	chr2:51926707-51926708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28961322	chr2:51926714-51926715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368672035	chr2:51926721-51926722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17863676	chr2:51926724-51926725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535621010	chr2:51926731-51926732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371626796	chr2:51926742-51926743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17868220	chr2:51926781-51926782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11563139	chr2:51926796-51926797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145933895	chr2:51926804-51926805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540529502	chr2:51926825-51926826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373497165	chr2:51926826-51926827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28961323	chr2:51926896-51926897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs13022286	chr2:51926904-51926905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540403433	chr2:51926935-51926936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112603992	chr2:51926954-51926955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536099155	chr2:51927009-51927010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573673969	chr2:51927045-51927046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543933464	chr2:51927057-51927058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28961324	chr2:51927083-51927084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140697983	chr2:51927122-51927123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184301083	chr2:51927142-51927143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550978269	chr2:51927196-51927197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564425387	chr2:51927207-51927208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528788688	chr2:51927290-51927291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560439693	chr2:51927319-51927320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557415234	chr2:51927331-51927332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532755951	chr2:51927341-51927342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376266451	chr2:51927350-51927351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28961325	chr2:51927375-51927376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536054513	chr2:51927382-51927383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550750447	chr2:51927384-51927385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559944266	chr2:51927397-51927398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201876185	chr2:51927404-51927405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17863677	chr2:51927422-51927423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188649866	chr2:51927438-51927439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573150656	chr2:51927455-51927456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533885333	chr2:51927468-51927469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555646556	chr2:51927479-51927480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147859573	chr2:51927523-51927524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182168677	chr2:51927524-51927525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186762743	chr2:51927578-51927579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190069501	chr2:51927592-51927593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Schizophrenia	20967226	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51924600-51926600	Enhancers	Liver	Liver
2	chr2:51925000-51927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:51927800-51930400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:51930400-51932000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:51932000-51932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:51932000-51933600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:51932600-51934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:51933600-51934000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:51934000-51934200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:51934600-51936000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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