Variant report

Variant	nsv817917
Chromosome Location	chr2:52060125-52066351
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	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:

Extended variants
information (count: 311 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5014872	chr2:52060125-52060126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531659982	chr2:52060145-52060146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58608904	chr2:52060172-52060173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565942310	chr2:52060224-52060225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1155425	chr2:52060231-52060232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539031333	chr2:52060236-52060237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148601565	chr2:52060259-52060260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141227076	chr2:52060263-52060264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190857386	chr2:52060288-52060289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150743710	chr2:52060290-52060291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372255732	chr2:52060310-52060311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545103701	chr2:52060320-52060321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182340363	chr2:52060324-52060325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536787840	chr2:52060364-52060365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558230200	chr2:52060384-52060385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561020207	chr2:52060394-52060395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576461072	chr2:52060417-52060418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540609975	chr2:52060438-52060439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186669097	chr2:52060452-52060453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572374645	chr2:52060459-52060460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10169783	chr2:52060468-52060469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1155424	chr2:52060473-52060474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531923101	chr2:52060496-52060497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139160878	chr2:52060508-52060509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199796934	chr2:52060575-52060576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138115555	chr2:52060577-52060578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80170922	chr2:52060578-52060579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34105477	chr2:52060579-52060580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565355170	chr2:52060582-52060583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532584549	chr2:52060649-52060650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4640423	chr2:52060665-52060666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2354985	chr2:52060680-52060681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190348900	chr2:52060690-52060691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145217013	chr2:52060692-52060693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569799434	chr2:52060752-52060753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537231234	chr2:52060753-52060754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558266977	chr2:52060768-52060769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576497886	chr2:52060777-52060778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530435523	chr2:52060881-52060882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534336776	chr2:52060882-52060883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4594482	chr2:52060883-52060884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572704910	chr2:52060885-52060886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563880145	chr2:52060889-52060890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183199059	chr2:52060892-52060893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146686100	chr2:52060913-52060914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77423734	chr2:52060922-52060923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576588430	chr2:52061076-52061077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4513332	chr2:52061087-52061088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111347181	chr2:52061098-52061099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551452147	chr2:52061107-52061108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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