Variant report

Variant	esv3404594
Chromosome Location	chr2:51742948-51744196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564925425	chr2:51743620-51743621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11563001	chr2:51743632-51743633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190451200	chr2:51743647-51743648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149300391	chr2:51743671-51743672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76194900	chr2:51743687-51743688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10495996	chr2:51743688-51743689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556617037	chr2:51743724-51743725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111228015	chr2:51743730-51743731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577964272	chr2:51743773-51743774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371900737	chr2:51743792-51743793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554503615	chr2:51743795-51743796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544966454	chr2:51743806-51743807	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375714013	chr2:51743808-51743809	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs28958302	chr2:51743830-51743831	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13010068	chr2:51743858-51743859	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147392594	chr2:51743869-51743870	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115778803	chr2:51743941-51743942	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531329911	chr2:51743957-51743958	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78513279	chr2:51744006-51744007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28958303	chr2:51744016-51744017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532171250	chr2:51744061-51744062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139818757	chr2:51744062-51744063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13027868	chr2:51744098-51744099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564069544	chr2:51744124-51744125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534113680	chr2:51744132-51744133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549613140	chr2:51744153-51744154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567734176	chr2:51744163-51744164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538344790	chr2:51744167-51744168	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51743600-51743800	Enhancers	HUVEC	blood vessel
2	chr2:51743800-51744000	Flanking Active TSS	HUVEC	blood vessel
3	chr2:51744000-51744200	Enhancers	HUVEC	blood vessel

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