Variant report

Variant	nsv457718
Chromosome Location	chr2:51756961-51797785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51755125-51764739..2:52034460-52043624	K562	blood:
2	2:51664217-51674289..2:51764739-51769547	H1-hESC	embryonic stem cell:	embryo
3	2:51785137-51786126..2:52106672-52112664	GM12878	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36117928	chr2:51795208-51795209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565429187	chr2:51795210-51795211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540405177	chr2:51795216-51795217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567593485	chr2:51795224-51795225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181034224	chr2:51795268-51795269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185232812	chr2:51795290-51795291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554081813	chr2:51795298-51795299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28957694	chr2:51795323-51795324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190433099	chr2:51795332-51795333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201578698	chr2:51795338-51795339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553702573	chr2:51795353-51795354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182647914	chr2:51795358-51795359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143304648	chr2:51795404-51795405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555620847	chr2:51795433-51795434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566378725	chr2:51795457-51795458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187029113	chr2:51795489-51795490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556338678	chr2:51795497-51795498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578023038	chr2:51795543-51795544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146071456	chr2:51795547-51795548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35590336	chr2:51795558-51795559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545186121	chr2:51795591-51795592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560667695	chr2:51795596-51795597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548851183	chr2:51795611-51795612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568925360	chr2:51795641-51795642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543054964	chr2:51795660-51795661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371867951	chr2:51795669-51795670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28958600	chr2:51795697-51795698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549955560	chr2:51795709-51795710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111735108	chr2:51795761-51795762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200034650	chr2:51795762-51795763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398104300	chr2:51795765-51795766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28950786	chr2:51795772-51795773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561679575	chr2:51795792-51795793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112333439	chr2:51795799-51795800	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51795200-51795800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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