Variant report

Variant	nsv593730
Chromosome Location	chr4:10721433-10726609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 241 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4697651	chr4:10721433-10721434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536615366	chr4:10721440-10721441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558117699	chr4:10721472-10721473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145533775	chr4:10721483-10721484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79176074	chr4:10721489-10721490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554387025	chr4:10721491-10721492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190418146	chr4:10721528-10721529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182710120	chr4:10721544-10721545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551982447	chr4:10721578-10721579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186982670	chr4:10721600-10721601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532779063	chr4:10721601-10721602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191517334	chr4:10721760-10721761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532025330	chr4:10721799-10721800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543865544	chr4:10721804-10721805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548078512	chr4:10721853-10721854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566412025	chr4:10721859-10721860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10001979	chr4:10721868-10721869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534505107	chr4:10721941-10721942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182863024	chr4:10721959-10721960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73105625	chr4:10721972-10721973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187512851	chr4:10722001-10722002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148766002	chr4:10722045-10722046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371701158	chr4:10722051-10722052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114028321	chr4:10722080-10722081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569650341	chr4:10722088-10722089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142389371	chr4:10722098-10722099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111330622	chr4:10722099-10722100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193269801	chr4:10722144-10722145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534716591	chr4:10722173-10722174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552763898	chr4:10722199-10722200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558647346	chr4:10722233-10722234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10002387	chr4:10722272-10722273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9684156	chr4:10722278-10722279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373655721	chr4:10722296-10722297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543275732	chr4:10722338-10722339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10000059	chr4:10722339-10722340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576854675	chr4:10722374-10722375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114749643	chr4:10722396-10722397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185493414	chr4:10722397-10722398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556021165	chr4:10722430-10722431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151304679	chr4:10722456-10722457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10000248	chr4:10722496-10722497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538495686	chr4:10722501-10722502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563098245	chr4:10722514-10722515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141814133	chr4:10722590-10722591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4269168	chr4:10722604-10722605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530119098	chr4:10722645-10722646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548011883	chr4:10722671-10722672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116358153	chr4:10722684-10722685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147115116	chr4:10722701-10722702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10719000-10722800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:10719000-10726200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:10721800-10722000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:10722000-10725800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:10722800-10723400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr4:10723000-10723400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr4:10723400-10723600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:10723400-10724000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:10723400-10724200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr4:10723600-10724200	Enhancers	Stomach Mucosa	stomach
11	chr4:10723600-10725200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:10723600-10725800	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:10724000-10724200	Enhancers	Primary T cells from cord blood	blood
14	chr4:10724000-10724400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr4:10724200-10725000	Flanking Active TSS	GM12878-XiMat	blood
16	chr4:10724200-10725400	Enhancers	Primary B cells from cord blood	blood
17	chr4:10724200-10725800	Enhancers	Fetal Thymus	thymus
18	chr4:10724200-10728400	Weak transcription	Primary T cells from cord blood	blood
19	chr4:10724400-10724600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:10724600-10725200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:10724600-10725200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr4:10724600-10725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:10724800-10725000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:10725000-10725400	Enhancers	GM12878-XiMat	blood
25	chr4:10725200-10726000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:10725200-10733000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:10725400-10726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:10725400-10728200	Weak transcription	GM12878-XiMat	blood
29	chr4:10725400-10729000	Weak transcription	Primary B cells from cord blood	blood
30	chr4:10725600-10726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:10725800-10726000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:10725800-10726200	Weak transcription	Fetal Thymus	thymus
33	chr4:10725800-10728400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:10726000-10747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:10726200-10726800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:10726200-10726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:10726200-10726800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:10726200-10728800	Enhancers	Fetal Thymus	thymus
39	chr4:10726400-10728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:10726600-10726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:10726600-10727000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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