Variant report

Variant	nsv9780
Chromosome Location	chr2:52797800-52800043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543610355	chr2:52798029-52798030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370286354	chr2:52798037-52798038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563426440	chr2:52798072-52798073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111829411	chr2:52798080-52798081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386646115	chr2:52798081-52798082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546084541	chr2:52798098-52798099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559668357	chr2:52798113-52798114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566375248	chr2:52798128-52798129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116016091	chr2:52798166-52798167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372091923	chr2:52798167-52798168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562250668	chr2:52798187-52798188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530869994	chr2:52798192-52798193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551160863	chr2:52798196-52798197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570685363	chr2:52798202-52798203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1405357	chr2:52798218-52798219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10189902	chr2:52798243-52798244	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546915108	chr2:52798263-52798264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566819451	chr2:52798278-52798279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146361031	chr2:52798335-52798336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17043082	chr2:52798341-52798342	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73931384	chr2:52798343-52798344	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185042033	chr2:52798349-52798350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60669340	chr2:52798358-52798359	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17043083	chr2:52798377-52798378	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143062507	chr2:52798382-52798383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553351376	chr2:52798404-52798405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573045114	chr2:52798470-52798471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542217455	chr2:52798471-52798472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113295830	chr2:52798505-52798506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561890332	chr2:52798519-52798520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531058367	chr2:52798521-52798522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575605262	chr2:52798541-52798542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544266684	chr2:52798555-52798556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564227588	chr2:52798579-52798580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533393257	chr2:52798585-52798586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146141318	chr2:52798586-52798587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566829895	chr2:52798590-52798591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529512585	chr2:52798627-52798628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs59466256	chr2:52798629-52798630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548189956	chr2:52798643-52798644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567928973	chr2:52798644-52798645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537033411	chr2:52798647-52798648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557120256	chr2:52798655-52798656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569251360	chr2:52798666-52798667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188986708	chr2:52798677-52798678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs57405814	chr2:52798692-52798693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369282428	chr2:52798693-52798694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553163194	chr2:52798737-52798738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs941054	chr2:52798793-52798794	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541733817	chr2:52798807-52798808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52798000-52798600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:52798000-52799600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:52798000-52800000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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