Variant report

Variant	nsv1006037
Chromosome Location	chr2:186193269-186217685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 275 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs850865	chr2:186196804-186196805	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62198776	chr2:186196841-186196842	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544575081	chr2:186196877-186196878	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190355667	chr2:186196881-186196882	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182470414	chr2:186196893-186196894	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540142223	chr2:186196903-186196904	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564470675	chr2:186196930-186196931	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187022053	chr2:186196951-186196952	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200832257	chr2:186196962-186196963	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191198801	chr2:186196977-186196978	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182571203	chr2:186196981-186196982	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148696501	chr2:186196989-186196990	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574334774	chr2:186196996-186196997	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541388242	chr2:186197005-186197006	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562966068	chr2:186197063-186197064	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187287468	chr2:186197086-186197087	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552062084	chr2:186197138-186197139	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550102824	chr2:186200446-186200447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565136362	chr2:186200510-186200511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141970430	chr2:186200543-186200544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561903148	chr2:186200576-186200577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573717872	chr2:186200578-186200579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75802937	chr2:186200591-186200592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551443990	chr2:186200618-186200619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552228901	chr2:186200622-186200623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560411847	chr2:186200623-186200624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189738704	chr2:186200649-186200650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182693366	chr2:186200671-186200672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13006304	chr2:186200675-186200676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538127024	chr2:186200689-186200690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556543050	chr2:186200719-186200720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367686599	chr2:186200728-186200729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185549519	chr2:186200729-186200730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553955138	chr2:186200836-186200837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572403247	chr2:186200860-186200861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143390507	chr2:186200861-186200862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs850871	chr2:186200869-186200870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10931169	chr2:186200874-186200875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114534800	chr2:186200910-186200911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565274256	chr2:186200920-186200921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532859398	chr2:186200935-186200936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74402278	chr2:186200949-186200950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551350722	chr2:186200961-186200962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527353949	chr2:186200973-186200974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563580395	chr2:186200996-186200997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192042897	chr2:186201014-186201015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567265883	chr2:186201039-186201040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4667032	chr2:186201048-186201049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568689775	chr2:186201053-186201054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183418664	chr2:186201066-186201067	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186196800-186197200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:186196800-186197200	ZNF genes & repeats	Aorta	Aorta
3	chr2:186196800-186197200	ZNF genes & repeats	Gastric	stomach
4	chr2:186196800-186197200	ZNF genes & repeats	Pancreas	Pancrea
5	chr2:186200400-186201400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:186202200-186203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:186202600-186203600	Enhancers	HMEC	breast
8	chr2:186203600-186207400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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