Variant report

Variant	nsv978997
Chromosome Location	chr2:41011362-41017343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527369833	chr2:41013424-41013425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114883213	chr2:41013447-41013448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142447790	chr2:41013453-41013454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181962622	chr2:41013462-41013463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369535078	chr2:41013464-41013465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149711044	chr2:41013484-41013485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35038364	chr2:41013485-41013486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551217070	chr2:41013488-41013489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552640741	chr2:41013490-41013491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373001173	chr2:41013519-41013520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536900911	chr2:41013531-41013532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555181683	chr2:41013539-41013540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185245807	chr2:41013564-41013565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368270089	chr2:41013595-41013596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534255464	chr2:41013599-41013600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145572161	chr2:41013622-41013623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574154043	chr2:41013637-41013638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555425626	chr2:41013644-41013645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376198284	chr2:41013663-41013664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577126434	chr2:41013740-41013741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148898324	chr2:41013744-41013745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556468006	chr2:41013749-41013750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116421645	chr2:41013762-41013763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190041832	chr2:41013806-41013807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370360747	chr2:41013830-41013831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527407530	chr2:41013834-41013835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369939226	chr2:41013871-41013872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181253716	chr2:41013901-41013902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186351200	chr2:41013968-41013969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1456589	chr2:41013972-41013973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549510456	chr2:41013975-41013976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569564291	chr2:41014006-41014007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530316591	chr2:41014012-41014013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114924875	chr2:41014036-41014037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567021794	chr2:41014054-41014055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534295752	chr2:41014145-41014146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191194337	chr2:41014151-41014152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565328191	chr2:41014179-41014180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570852092	chr2:41014227-41014228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538284976	chr2:41014230-41014231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544687730	chr2:41014309-41014310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556274580	chr2:41014323-41014324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574686212	chr2:41014343-41014344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541675571	chr2:41014360-41014361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143616779	chr2:41014382-41014383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571873435	chr2:41014390-41014391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547477910	chr2:41014515-41014516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545576353	chr2:41014545-41014546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377024448	chr2:41014569-41014570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183558914	chr2:41014576-41014577	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:41013400-41014200	Enhancers	Fetal Kidney	kidney
2	chr2:41013600-41014600	Enhancers	HUVEC	blood vessel
3	chr2:41017200-41017400	Enhancers	Dnd41	blood
4	chr2:41017200-41017400	Flanking Active TSS	Osteobl	bone

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