Variant report

Variant	esv3449013
Chromosome Location	chr2:185419407-185422805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372216556	chr2:185419431-185419432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538647654	chr2:185419474-185419475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532910052	chr2:185419520-185419521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551404437	chr2:185419536-185419537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566536367	chr2:185419559-185419560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527400478	chr2:185419575-185419576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190196017	chr2:185419583-185419584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374967418	chr2:185419603-185419604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72895669	chr2:185419616-185419617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568956892	chr2:185419617-185419618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116491456	chr2:185419627-185419628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555995414	chr2:185419732-185419733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572114463	chr2:185419761-185419762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1365719	chr2:185419772-185419773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531973701	chr2:185419839-185419840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553771816	chr2:185419854-185419855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140335764	chr2:185419857-185419858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182153495	chr2:185419877-185419878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554855635	chr2:185419888-185419889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185509039	chr2:185419961-185419962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150348074	chr2:185419972-185419973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565537875	chr2:185420025-185420026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377499561	chr2:185420035-185420036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145143026	chr2:185420039-185420040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149112176	chr2:185420047-185420048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565384568	chr2:185420061-185420062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115997181	chr2:185420085-185420086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527378579	chr2:185420154-185420155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549110853	chr2:185420164-185420165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567254465	chr2:185420174-185420175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189265510	chr2:185420215-185420216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113529536	chr2:185420229-185420230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149577488	chr2:185420230-185420231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180748534	chr2:185420242-185420243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571181713	chr2:185420252-185420253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538574233	chr2:185420271-185420272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138820121	chr2:185420283-185420284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141924792	chr2:185420293-185420294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373086105	chr2:185420321-185420322	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185419000-185420400	Enhancers	HMEC	breast
2	chr2:185419200-185419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:185419200-185420000	Enhancers	NHEK	skin
4	chr2:185419200-185420200	Enhancers	Muscle Satellite Cultured Cells	--

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