Variant report

Variant	nsv470459
Chromosome Location	chr2:50431752-50514027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:50491641..50493832-chr2:50495172..50497236,2	MCF-7	breast:
2	chr2:50475641..50477316-chr2:50477684..50480524,2	K562	blood:
3	chr2:50491641..50493832-chr2:50495172..50497236,2	MCF-7	breast:
4	chr2:50475641..50477316-chr2:50477684..50480524,2	K562	blood:
5	chr2:50393318..50395919-chr2:50456799..50459520,2	K562	blood:

Extended variants
information (count: 1858 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551329314	chr2:50435003-50435004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111371785	chr2:50435042-50435043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143639296	chr2:50435043-50435044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552910764	chr2:50435048-50435049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7559336	chr2:50435064-50435065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558010018	chr2:50435122-50435123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188296322	chr2:50435138-50435139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180699809	chr2:50435155-50435156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73930314	chr2:50435173-50435174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546375271	chr2:50435189-50435190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540898111	chr2:50435193-50435194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183743971	chr2:50435219-50435220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572933631	chr2:50435256-50435257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540345910	chr2:50435317-50435318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561640710	chr2:50435320-50435321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17040212	chr2:50435324-50435325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188853197	chr2:50435342-50435343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181203749	chr2:50435347-50435348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6545156	chr2:50435355-50435356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551509279	chr2:50435357-50435358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371855895	chr2:50435360-50435361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185208250	chr2:50442219-50442220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567185920	chr2:50442228-50442229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527839022	chr2:50442249-50442250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190900530	chr2:50442274-50442275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6724128	chr2:50442276-50442277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs113138873	chr2:50442284-50442285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376143474	chr2:50442287-50442288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555721577	chr2:50442312-50442313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570885862	chr2:50442389-50442390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183010230	chr2:50442470-50442471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553611711	chr2:50442473-50442474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148169702	chr2:50442527-50442528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542455944	chr2:50442547-50442548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141973534	chr2:50442548-50442549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57241326	chr2:50442568-50442569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567274458	chr2:50442570-50442571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562992186	chr2:50442593-50442594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150691688	chr2:50442611-50442612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186339851	chr2:50442631-50442632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560719212	chr2:50442668-50442669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550398543	chr2:50442679-50442680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191138625	chr2:50442685-50442686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567879424	chr2:50442697-50442698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183194673	chr2:50442704-50442705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570162850	chr2:50442712-50442713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187440896	chr2:50442727-50442728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549432518	chr2:50442731-50442732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571020926	chr2:50442773-50442774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538201919	chr2:50442780-50442781	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50435000-50435400	Enhancers	Aorta	Aorta
2	chr2:50442200-50444000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:50449200-50449400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:50449200-50449400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:50449200-50449400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:50449200-50449400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:50449200-50449400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:50449200-50449400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:50449600-50450600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:50449600-50450600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:50449600-50450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:50449600-50450600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:50449600-50450600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:50449600-50450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:50450400-50452200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:50450600-50451000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:50450600-50451000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:50450600-50451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:50450600-50453800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:50450600-50453800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:50450600-50454200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:50450600-50454400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:50450800-50451000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:50450800-50452000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:50450800-50453400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:50451000-50451200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:50451000-50452200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:50451000-50452400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:50451200-50452200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:50451200-50452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:50452000-50452200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:50452200-50452400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:50452200-50452400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:50452200-50452600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:50452200-50453800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:50452200-50454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:50452400-50452600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:50452400-50453200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:50452400-50453400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:50452600-50453400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:50452600-50454600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:50453200-50453800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:50453800-50454000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:50453800-50454000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:50454000-50454600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:50454600-50454800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:50454600-50454800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:50454800-50458600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:50458600-50459000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:50458600-50459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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