Variant report

Variant	nsv64
Chromosome Location	chr11:4959236-4985373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:307)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4982222-4982408	K562	blood:	n/a	n/a
2	ATF3	chr11:4982190-4982479	K562	blood:	n/a	n/a
3	CCNT2	chr11:4964325-4964404	K562	blood:	n/a	n/a
4	CEBPB	chr11:4982771-4982949	A549	lung:	n/a	chr11:4982850-4982861
5	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
6	CEBPB	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
7	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
8	CTCF	chr11:4959520-4959551	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
10	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
11	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
13	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:4982121-4982477	MCF10A-Er-Src	breast:	n/a	n/a
17	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
18	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
19	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
20	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
21	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
22	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
23	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
24	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
25	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
26	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
27	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
28	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
29	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
30	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
31	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
33	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:4961274-4961285	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:4982196-4982265	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
40	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
41	RFX5	chr11:4982683-4982763	K562	blood:	n/a	n/a
42	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
43	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:4982236-4982423	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:4978312-4978424	MCF10A-Er-Src	breast:	n/a	n/a
46	ZNF384	chr11:4978824-4978886	K562	blood:	n/a	n/a
47	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4977540-4977590	HRCEpiC	kidney:	n/a
2	chr11:4977429-4977479	Hepatocyte	liver:	n/a
3	chr11:4977540-4977590	HRCEpiC	kidney:	n/a
4	chr11:4977429-4977479	Hepatocyte	liver:	n/a
5	chr11:4977001-4977051	HRCEpiC	kidney:	n/a
6	chr11:4977001-4977051	GM19239	blood:	n/a
7	chr11:4977540-4977590	MCF10A-Er-Src	breast:	n/a
8	chr11:4976263-4976313	T-47D	breast:	n/a
9	chr11:4976263-4976313	HCM	heart:	n/a
10	chr11:4976263-4976313	CMK	blood:	n/a
11	chr11:4977001-4977051	Caco-2	colon:	n/a
12	chr11:4977924-4977974	NT2-D1	testis:	n/a
13	chr11:4977429-4977479	GM19239	blood:	n/a
14	chr11:4977924-4977974	HCPEpiC	choroid plexus:	n/a
15	chr11:4977429-4977479	AG09309	skin:	n/a
16	chr11:4977540-4977590	HEEpiC	esophagus:	n/a
17	chr11:4977429-4977479	HEEpiC	esophagus:	n/a
18	chr11:4976263-4976313	ovcar-3	ovarian:	n/a
19	chr11:4977001-4977051	T-47D	breast:	n/a
20	chr11:4977924-4977974	AG09309	skin:	n/a
21	chr11:4977429-4977479	HEK293	kidney:	embryo
22	chr11:4977001-4977051	NT2-D1	testis:	n/a
23	chr11:4977924-4977974	HCF	heart:	n/a
24	chr11:4977429-4977479	Hela-S3	cervix:	n/a
25	chr11:4977001-4977051	HRE	kidney:	n/a
26	chr11:4977001-4977051	A549	lung:	n/a
27	chr11:4977429-4977479	A549	lung:	n/a
28	chr11:4977001-4977051	HCT-116	colon:	n/a
29	chr11:4977540-4977590	Hela-S3	cervix:	n/a
30	chr11:4976263-4976313	NHBE	bronchial:	n/a
31	chr11:4976263-4976313	HEEpiC	esophagus:	n/a
32	chr11:4976263-4976313	NHDF-neo	bronchial:	n/a
33	chr11:4977924-4977974	HNPCEpiC	eye:	n/a
34	chr11:4977540-4977590	U87	brain:	n/a
35	chr11:4977001-4977051	HCF	heart:	n/a
36	chr11:4977924-4977974	Hepatocyte	liver:	n/a
37	chr11:4977429-4977479	HIPEpiC	eye:	n/a
38	chr11:4976263-4976313	BJ	skin:	n/a
39	chr11:4976263-4976313	ECC-1	luminal epithelium:	n/a
40	chr11:4977924-4977974	GM12878	blood:	n/a
41	chr11:4977924-4977974	ovcar-3	ovarian:	n/a
42	chr11:4977540-4977590	HCPEpiC	choroid plexus:	n/a
43	chr11:4977001-4977051	Hepatocyte	liver:	n/a
44	chr11:4977540-4977590	HAEpiC	amniotic membrane:	n/a
45	chr11:4977540-4977590	HRE	kidney:	n/a
46	chr11:4977001-4977051	ECC-1	luminal epithelium:	n/a
47	chr11:4977540-4977590	ECC-1	luminal epithelium:	n/a
48	chr11:4977001-4977051	LNCaP	prostate:	n/a
49	chr11:4977924-4977974	SK-N-SH_RA	brain:	n/a
50	chr11:4977001-4977051	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
2	11:4778081-4789138..11:4979189-4988077	K562	blood:
3	11:4789513-4794705..11:4979189-4988077	K562	blood:

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A2	TF binding region
OR51A3P	TF binding region
OR51A4	CpG island
OR51A2	CpG island
OR51A3P	CpG island
ENSG00000132274	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000188069	chromatin interactions

Extended variants
information (count: 500 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:500 , 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	rs34311978	chr11:4959264-4959265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113150497	chr11:4959280-4959281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140113679	chr11:4959282-4959283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548173169	chr11:4959284-4959285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569974860	chr11:4959285-4959286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537295077	chr11:4959289-4959290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552393765	chr11:4959332-4959333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369810011	chr11:4959363-4959364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575361783	chr11:4959386-4959387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571655270	chr11:4959397-4959398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570542234	chr11:4959426-4959427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72858189	chr11:4959479-4959480	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75198786	chr11:4959510-4959511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371937314	chr11:4959518-4959519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192576134	chr11:4959558-4959559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7937103	chr11:4959638-4959639	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2596004	chr11:4959662-4959663	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142470986	chr11:4959668-4959669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575523956	chr11:4959685-4959686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543759501	chr11:4959692-4959693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565515119	chr11:4959698-4959699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577351285	chr11:4959781-4959782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185012771	chr11:4959788-4959789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59573305	chr11:4959807-4959808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188672601	chr11:4959808-4959809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151324723	chr11:4959879-4959880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116583831	chr11:4959953-4959954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139273812	chr11:4959969-4959970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546334565	chr11:4959975-4959976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552169329	chr11:4959996-4959997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570651057	chr11:4960017-4960018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573568537	chr11:4960021-4960022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369129985	chr11:4960029-4960030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12288920	chr11:4960032-4960033	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs112284297	chr11:4960059-4960060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557166856	chr11:4960072-4960073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368307930	chr11:4960073-4960074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536303418	chr11:4960078-4960079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369135554	chr11:4960079-4960080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554592885	chr11:4960085-4960086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192702037	chr11:4960093-4960094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116894438	chr11:4960142-4960143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558965573	chr11:4960189-4960190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569274602	chr11:4960190-4960191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551508138	chr11:4960193-4960194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541274440	chr11:4960264-4960265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553555269	chr11:4960283-4960284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs72858191	chr11:4960344-4960345	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527538218	chr11:4960357-4960358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12282202	chr11:4960358-4960359	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4983800-4984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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