Variant report

Variant	nsv581806
Chromosome Location	chr2:49533498-49547555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558963676	chr2:49533803-49533804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577399865	chr2:49533811-49533812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541634199	chr2:49533814-49533815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139334622	chr2:49533819-49533820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190582731	chr2:49533839-49533840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559020450	chr2:49533840-49533841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551898184	chr2:49533861-49533862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563726368	chr2:49533877-49533878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372246305	chr2:49533878-49533879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77526550	chr2:49533880-49533881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183109171	chr2:49533885-49533886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565027236	chr2:49533899-49533900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532222670	chr2:49534010-49534011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375264153	chr2:49534036-49534037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547194087	chr2:49534045-49534046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187886007	chr2:49534078-49534079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191185404	chr2:49534079-49534080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535958649	chr2:49534098-49534099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534372823	chr2:49534102-49534103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569661649	chr2:49534103-49534104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536626388	chr2:49534106-49534107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559241996	chr2:49534140-49534141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552550468	chr2:49534179-49534180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535288049	chr2:49534185-49534186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567934978	chr2:49534228-49534229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553610395	chr2:49534251-49534252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150038112	chr2:49534261-49534262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13006558	chr2:49534276-49534277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563618567	chr2:49534279-49534280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575636548	chr2:49534283-49534284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545876446	chr2:49534285-49534286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184660317	chr2:49534303-49534304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12620389	chr2:49534329-49534330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551379936	chr2:49534357-49534358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547255328	chr2:49534392-49534393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187932667	chr2:49534432-49534433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111811114	chr2:49534472-49534473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112561293	chr2:49534475-49534476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559154096	chr2:49534503-49534504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529816712	chr2:49534524-49534525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575172339	chr2:49534566-49534567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376061259	chr2:49534610-49534611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548300330	chr2:49534619-49534620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397787678	chr2:49534620-49534621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569640252	chr2:49534719-49534720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537096500	chr2:49534729-49534730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544141454	chr2:49534732-49534733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6733758	chr2:49534736-49534737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541510348	chr2:49534740-49534741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180966335	chr2:49545010-49545011	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49533800-49534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:49533800-49534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:49533800-49534800	Enhancers	HUVEC	blood vessel
4	chr2:49534000-49534400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:49534000-49534600	Enhancers	HepG2	liver
6	chr2:49545000-49545400	Enhancers	HUES48 Cell Line	embryonic stem cell

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