Variant report

Variant	nsv1001443
Chromosome Location	chr2:52868208-52884023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 456 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546783102	chr2:52871208-52871209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs75538732	chr2:52871209-52871210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs72888134	chr2:52871266-52871267	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13423730	chr2:52871315-52871316	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145579202	chr2:52871380-52871381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188616847	chr2:52871461-52871462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs57167370	chr2:52871487-52871488	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75453538	chr2:52871497-52871498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs57278823	chr2:52871524-52871525	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546572894	chr2:52871566-52871567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs148526162	chr2:52871570-52871571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs58140171	chr2:52871597-52871598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549225993	chr2:52871611-52871612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146533874	chr2:52871695-52871696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs199783695	chr2:52871705-52871706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11692103	chr2:52871706-52871707	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568254828	chr2:52871740-52871741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192993984	chr2:52871751-52871752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533975037	chr2:52871755-52871756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553743254	chr2:52871759-52871760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184692689	chr2:52871763-52871764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141218463	chr2:52871764-52871765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556356211	chr2:52871776-52871777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576593430	chr2:52871777-52871778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368971773	chr2:52871789-52871790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577372799	chr2:52871814-52871815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545231387	chr2:52871815-52871816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565575782	chr2:52871826-52871827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35384724	chr2:52871837-52871838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150781847	chr2:52871866-52871867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199529370	chr2:52871868-52871869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs386646121	chr2:52871869-52871870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201397752	chr2:52871870-52871871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540264526	chr2:52871888-52871889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs189609094	chr2:52871928-52871929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs350752	chr2:52871941-52871942	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191136438	chr2:52871944-52871945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376343736	chr2:52872003-52872004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562402245	chr2:52872023-52872024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531533638	chr2:52872041-52872042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551280199	chr2:52872042-52872043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183685137	chr2:52872055-52872056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571561458	chr2:52872077-52872078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556237736	chr2:52872103-52872104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188254946	chr2:52872135-52872136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547417873	chr2:52872147-52872148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567345593	chr2:52872176-52872177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs72888142	chr2:52874027-52874028	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141369404	chr2:52874036-52874037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558121662	chr2:52874091-52874092	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52871200-52872200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:52874000-52875200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:52874600-52874800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:52874600-52875400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52874600-52875800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:52874800-52876000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:52878400-52878600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:52878600-52884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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