Variant report

Variant	esv3693332
Chromosome Location	chr2:78857870-78870453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186808527	chr2:78861222-78861223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141239718	chr2:78861264-78861265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576265881	chr2:78861295-78861296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79514068	chr2:78861296-78861297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191999689	chr2:78861308-78861309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146948536	chr2:78861342-78861343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183366483	chr2:78861411-78861412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs137930697	chr2:78861433-78861434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189221000	chr2:78861434-78861435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192518704	chr2:78861438-78861439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575202732	chr2:78861443-78861444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555554300	chr2:78861466-78861467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544031764	chr2:78861489-78861490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116638111	chr2:78861490-78861491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538982121	chr2:78861553-78861554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544909730	chr2:78861598-78861599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72917681	chr2:78861610-78861611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574011312	chr2:78861611-78861612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368894489	chr2:78861635-78861636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545058480	chr2:78861699-78861700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368229461	chr2:78861706-78861707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564805376	chr2:78861719-78861720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374930540	chr2:78869024-78869025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182825401	chr2:78869031-78869032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567394755	chr2:78869034-78869035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529848607	chr2:78869073-78869074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72917688	chr2:78869090-78869091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563851178	chr2:78869111-78869112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187446084	chr2:78869123-78869124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115651043	chr2:78869124-78869125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552573855	chr2:78869193-78869194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200785615	chr2:78869212-78869213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376052227	chr2:78869229-78869230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369539167	chr2:78869254-78869255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534985707	chr2:78869285-78869286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192240353	chr2:78869301-78869302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568726101	chr2:78869310-78869311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148708403	chr2:78869322-78869323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557265665	chr2:78869385-78869386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576123374	chr2:78869387-78869388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538335150	chr2:78869460-78869461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79962411	chr2:78869471-78869472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28575898	chr2:78869476-78869477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571424721	chr2:78869501-78869502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540583523	chr2:78869510-78869511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560851523	chr2:78869513-78869514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574387709	chr2:78869529-78869530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184303417	chr2:78869583-78869584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563320421	chr2:78869600-78869601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532665414	chr2:78869640-78869641	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78861200-78861600	Enhancers	Brain Germinal Matrix	brain
2	chr2:78861200-78861800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:78869000-78869400	Enhancers	Brain Anterior Caudate	brain
4	chr2:78869200-78869800	Enhancers	Brain Germinal Matrix	brain
5	chr2:78869400-78870200	Enhancers	Colon Smooth Muscle	Colon

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