Variant report

Variant	esv1003696
Chromosome Location	chr2:182565882-182575653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184759600	chr2:182568209-182568210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537009496	chr2:182568235-182568236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188035310	chr2:182568236-182568237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs180880444	chr2:182568278-182568279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542920980	chr2:182568322-182568323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72889387	chr2:182568344-182568345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573039216	chr2:182568374-182568375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545243031	chr2:182568414-182568415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140654834	chr2:182568445-182568446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533260791	chr2:182568456-182568457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs3906816	chr2:182568460-182568461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116919931	chr2:182568472-182568473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150466251	chr2:182568475-182568476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545529580	chr2:182568476-182568477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145407604	chr2:182568478-182568479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs9679434	chr2:182568483-182568484	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528616120	chr2:182568507-182568508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568012257	chr2:182568541-182568542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116572808	chr2:182568547-182568548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2696323	chr2:182568548-182568549	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149206546	chr2:182568569-182568570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115331033	chr2:182568592-182568593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536266519	chr2:182568604-182568605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143399878	chr2:182568610-182568611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115962939	chr2:182568611-182568612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116340032	chr2:182568631-182568632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185236099	chr2:182568644-182568645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143442508	chr2:182568664-182568665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367591117	chr2:182568737-182568738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201057736	chr2:182568739-182568740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563821096	chr2:182568788-182568789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529543214	chr2:182574830-182574831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549294039	chr2:182574892-182574893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141907912	chr2:182574968-182574969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528701395	chr2:182574986-182574987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528133360	chr2:182574991-182574992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189320660	chr2:182575047-182575048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62190050	chr2:182575113-182575114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145671436	chr2:182575143-182575144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147762354	chr2:182575151-182575152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550584755	chr2:182575200-182575201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76188460	chr2:182575237-182575238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115319401	chr2:182575264-182575265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553567034	chr2:182575297-182575298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34862582	chr2:182575307-182575308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140113446	chr2:182575314-182575315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115202189	chr2:182575337-182575338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367926233	chr2:182575362-182575363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575129453	chr2:182575369-182575370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150317405	chr2:182575393-182575394	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182568200-182568600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:182568200-182568600	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr2:182568200-182568800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:182574800-182576400	Enhancers	Primary neutrophils fromperipheralblood	blood

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