Variant report

Variant	nsv433205
Chromosome Location	chr2:141270270-141285694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116220759	chr2:141282234-141282235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12616000	chr2:141282257-141282258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548096439	chr2:141282277-141282278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116717620	chr2:141282282-141282283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536831328	chr2:141282283-141282284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186474761	chr2:141282284-141282285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150376540	chr2:141282306-141282307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538694850	chr2:141282311-141282312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191401030	chr2:141282317-141282318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572659907	chr2:141282329-141282330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541676708	chr2:141282331-141282332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561400408	chr2:141282376-141282377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376036641	chr2:141282401-141282402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575011365	chr2:141282427-141282428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552534973	chr2:141282435-141282436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374149706	chr2:141282447-141282448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182432372	chr2:141282448-141282449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563418588	chr2:141282452-141282453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532196218	chr2:141282458-141282459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552209506	chr2:141282469-141282470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138032380	chr2:141282479-141282480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528395368	chr2:141282531-141282532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376864243	chr2:141282549-141282550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186818253	chr2:141282591-141282592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200852784	chr2:141282603-141282604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550360149	chr2:141282604-141282605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569820005	chr2:141282680-141282681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149520125	chr2:141282749-141282750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558696746	chr2:141282752-141282753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115333834	chr2:141282765-141282766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11891453	chr2:141282801-141282802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528139887	chr2:141282807-141282808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555283288	chr2:141282816-141282817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546567412	chr2:141282880-141282881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11890379	chr2:141282923-141282924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191240387	chr2:141282933-141282934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557546664	chr2:141282957-141282958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552415295	chr2:141282970-141282971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183466404	chr2:141282990-141282991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13404083	chr2:141283401-141283402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143896447	chr2:141283416-141283417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72973993	chr2:141283425-141283426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568776928	chr2:141283453-141283454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537703391	chr2:141283462-141283463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557607735	chr2:141283471-141283472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201766309	chr2:141283472-141283473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143446090	chr2:141283492-141283493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150122153	chr2:141283532-141283533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199852537	chr2:141283561-141283562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546068718	chr2:141283572-141283573	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141282200-141283000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:141283400-141284600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:141283800-141284200	Enhancers	Gastric	stomach

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