Variant report

Variant	esv3407751
Chromosome Location	chr2:52022448-52026746
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	chr2:50756714..50757394-chr2:52022672..52023233,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149897299	chr2:52022448-52022449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184632198	chr2:52022461-52022462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576916355	chr2:52022462-52022463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540979922	chr2:52022484-52022485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28966696	chr2:52022488-52022489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572685678	chr2:52022492-52022493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543285440	chr2:52022536-52022537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561673997	chr2:52022544-52022545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188015860	chr2:52022593-52022594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28966697	chr2:52022609-52022610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549874186	chr2:52022614-52022615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564993489	chr2:52022615-52022616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542943184	chr2:52022631-52022632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192279479	chr2:52022681-52022682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28966698	chr2:52022708-52022709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373009453	chr2:52022729-52022730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79375356	chr2:52022752-52022753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185074365	chr2:52022768-52022769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548434764	chr2:52022803-52022804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569766806	chr2:52022842-52022843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537201859	chr2:52022887-52022888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377058000	chr2:52022905-52022906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116583779	chr2:52022944-52022945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561661388	chr2:52022970-52022971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534692062	chr2:52022995-52022996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374034298	chr2:52022999-52023000	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52022000-52022600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:52022000-52022800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:52022200-52022600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:52022400-52022800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:52022400-52023000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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