Variant report

Variant	nsv980290
Chromosome Location	chr4:9722315-9723787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188037329	chr4:9722327-9722328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535919099	chr4:9722360-9722361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181887837	chr4:9722377-9722378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115884814	chr4:9722399-9722400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545615229	chr4:9722400-9722401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73802973	chr4:9722401-9722402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2037315	chr4:9722408-9722409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561927643	chr4:9722456-9722457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60248004	chr4:9722473-9722474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186097304	chr4:9722474-9722475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144729448	chr4:9722481-9722482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540060820	chr4:9722520-9722521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551980740	chr4:9722542-9722543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190843985	chr4:9722557-9722558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181891546	chr4:9722594-9722595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555447260	chr4:9722605-9722606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377492843	chr4:9722660-9722661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541120223	chr4:9722670-9722671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186872748	chr4:9722683-9722684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537805127	chr4:9722748-9722749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556002722	chr4:9722762-9722763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577641327	chr4:9722764-9722765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143366857	chr4:9722780-9722781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559746383	chr4:9722782-9722783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572049615	chr4:9722794-9722795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13142212	chr4:9722814-9722815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113804027	chr4:9722832-9722833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145365292	chr4:9722840-9722841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13142396	chr4:9722847-9722848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113886016	chr4:9722859-9722860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562869557	chr4:9722871-9722872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370748481	chr4:9722882-9722883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149530371	chr4:9722884-9722885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549333006	chr4:9722906-9722907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201611724	chr4:9722915-9722916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199750820	chr4:9722916-9722917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533448433	chr4:9722917-9722918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138672033	chr4:9722919-9722920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567064778	chr4:9722920-9722921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200184513	chr4:9722923-9722924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375756879	chr4:9722929-9722930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113264968	chr4:9722949-9722950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191315412	chr4:9722959-9722960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549419104	chr4:9722966-9722967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563840310	chr4:9722975-9722976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183141649	chr4:9722978-9722979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537467190	chr4:9722989-9722990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531207110	chr4:9723015-9723016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556105840	chr4:9723060-9723061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371187274	chr4:9723066-9723067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9721600-9722800	Enhancers	Fetal Thymus	thymus
2	chr4:9721800-9722400	Enhancers	Thymus	Thymus
3	chr4:9722800-9727400	Weak transcription	Fetal Thymus	thymus

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