Variant report

Variant	nsv581832
Chromosome Location	chr2:49676328-49695453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574213537	chr2:49692434-49692435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189580662	chr2:49692437-49692438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75505481	chr2:49692467-49692468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542513175	chr2:49692473-49692474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554859304	chr2:49692487-49692488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573918499	chr2:49692490-49692491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576072282	chr2:49692540-49692541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181271209	chr2:49692547-49692548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551976416	chr2:49692551-49692552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544805469	chr2:49692587-49692588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs67707836	chr2:49692626-49692627	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543127010	chr2:49692640-49692641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562898367	chr2:49692702-49692703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78203362	chr2:49692733-49692734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545558600	chr2:49692820-49692821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185860637	chr2:49692828-49692829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151131559	chr2:49692829-49692830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560596412	chr2:49692842-49692843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148629184	chr2:49692918-49692919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200039596	chr2:49692920-49692921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549369921	chr2:49692921-49692922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139060242	chr2:49692957-49692958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531178250	chr2:49692982-49692983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527769909	chr2:49692991-49692992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36072406	chr2:49693001-49693002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368055878	chr2:49693011-49693012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538347064	chr2:49693041-49693042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547095965	chr2:49693052-49693053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57231677	chr2:49693053-49693054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536463780	chr2:49693065-49693066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554541128	chr2:49693110-49693111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373892183	chr2:49693111-49693112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530086682	chr2:49693134-49693135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4485596	chr2:49693142-49693143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115921491	chr2:49693143-49693144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13414339	chr2:49693194-49693195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145125740	chr2:49693197-49693198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532614516	chr2:49693213-49693214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543225709	chr2:49693214-49693215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190286109	chr2:49693270-49693271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532013839	chr2:49693286-49693287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550098663	chr2:49693293-49693294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181450026	chr2:49693297-49693298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531992620	chr2:49693306-49693307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376718020	chr2:49693326-49693327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147596669	chr2:49693332-49693333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142155701	chr2:49693336-49693337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552424950	chr2:49693340-49693341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548351271	chr2:49693346-49693347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569791139	chr2:49693354-49693355	Weak transcription	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	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49692400-49692800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:49692600-49699600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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