Variant report

Variant	nsv527163
Chromosome Location	chr4:21490361-21494981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1565947	chr4:21490361-21490362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144077082	chr4:21490413-21490414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576733611	chr4:21490435-21490436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544000719	chr4:21490470-21490471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1013226	chr4:21490487-21490488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116868376	chr4:21490493-21490494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189358164	chr4:21490499-21490500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386672409	chr4:21490515-21490516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75568132	chr4:21490516-21490517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544797278	chr4:21490590-21490591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181262617	chr4:21490603-21490604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530503502	chr4:21490635-21490636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555995725	chr4:21490651-21490652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73252227	chr4:21490702-21490703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114048927	chr4:21490777-21490778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185602365	chr4:21490870-21490871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28608541	chr4:21490875-21490876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73252228	chr4:21490888-21490889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1976300	chr4:21490899-21490900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190399484	chr4:21490911-21490912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1841372	chr4:21490921-21490922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529825719	chr4:21490945-21490946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56261146	chr4:21490961-21490962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570198671	chr4:21490990-21490991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148685696	chr4:21490992-21490993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1841371	chr4:21491001-21491002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs574278424	chr4:21491010-21491011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1976299	chr4:21491016-21491017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142240205	chr4:21491029-21491030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35747500	chr4:21491041-21491042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182776608	chr4:21491058-21491059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563968181	chr4:21491084-21491085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77308779	chr4:21491099-21491100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562920940	chr4:21491169-21491170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575039885	chr4:21491180-21491181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151223938	chr4:21491195-21491196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1824470	chr4:21491223-21491224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374353417	chr4:21491229-21491230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16871190	chr4:21491230-21491231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559671796	chr4:21491254-21491255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140458399	chr4:21491261-21491262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16871192	chr4:21491292-21491293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531981885	chr4:21491322-21491323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374561744	chr4:21491323-21491324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532290799	chr4:21491372-21491373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551780964	chr4:21491375-21491376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570062028	chr4:21491377-21491378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377380164	chr4:21491405-21491406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386672410	chr4:21491455-21491456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115942775	chr4:21491457-21491458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21487600-21492600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21492000-21492600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:21492200-21492800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:21492400-21493000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:21492600-21493000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:21493000-21494400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:21494400-21495800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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