Variant report

Variant	nsv963788
Chromosome Location	chr2:49943956-49947960
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	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
2	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538416805	chr2:49943995-49943996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187536081	chr2:49944008-49944009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565596972	chr2:49944061-49944062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569051187	chr2:49944092-49944093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538061357	chr2:49944108-49944109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551668821	chr2:49944112-49944113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7595347	chr2:49944137-49944138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376226693	chr2:49944204-49944205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376862091	chr2:49944212-49944213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192395688	chr2:49944214-49944215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544725740	chr2:49944216-49944217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556658791	chr2:49944244-49944245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578222142	chr2:49944289-49944290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149034249	chr2:49944313-49944314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143065018	chr2:49944320-49944321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369942272	chr2:49944322-49944323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185639576	chr2:49944341-49944342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560973666	chr2:49944421-49944422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138739430	chr2:49944434-49944435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557020432	chr2:49944448-49944449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577069168	chr2:49944451-49944452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549487637	chr2:49944474-49944475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370422644	chr2:49944489-49944490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570961890	chr2:49944535-49944536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72831140	chr2:49944546-49944547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10185615	chr2:49944565-49944566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs565732766	chr2:49944595-49944596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34208109	chr2:49944626-49944627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367688418	chr2:49944634-49944635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548170601	chr2:49944654-49944655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189365061	chr2:49944676-49944677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536328258	chr2:49944687-49944688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556705831	chr2:49944773-49944774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142797484	chr2:49944810-49944811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147417152	chr2:49944846-49944847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35715398	chr2:49944877-49944878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554434645	chr2:49944886-49944887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542141754	chr2:49944898-49944899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576199549	chr2:49944939-49944940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138195496	chr2:49944986-49944987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141764938	chr2:49945000-49945001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545210119	chr2:49945057-49945058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542972573	chr2:49945140-49945141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561925607	chr2:49945206-49945207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79204461	chr2:49945238-49945239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530981626	chr2:49945242-49945243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564528905	chr2:49945248-49945249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544333086	chr2:49945284-49945285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532121670	chr2:49945315-49945316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547065429	chr2:49945316-49945317	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
Bladder cancer	21909424	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
Breast cancer	21364760	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
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49941400-49945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:49943000-49944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:49945200-49947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:49946200-49946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:49946400-49947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:49946600-49946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:49946800-49947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:49947000-49947200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:49947200-49948000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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