Variant report

Variant	nsv515951
Chromosome Location	chr11:5060941-5073101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5064630-5064974	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:5067976-5068359	K562	blood:	n/a	chr11:5068152-5068163
3	CEBPB	chr11:5067979-5068344	A549	lung:	n/a	chr11:5068152-5068163
4	CEBPB	chr11:5067975-5068346	HepG2	liver:	n/a	chr11:5068152-5068163
5	CEBPB	chr11:5067969-5068355	H1-hESC	embryonic stem cell:	n/a	chr11:5068152-5068163
6	CEBPB	chr11:5067979-5068337	IMR90	lung:	n/a	chr11:5068152-5068163
7	CEBPB	chr11:5064651-5065002	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:5067985-5068302	Hela-S3	cervix:	n/a	chr11:5068152-5068163
9	CTCF	chr11:5068300-5068450	GM12868	blood:	n/a	n/a
10	EP300	chr11:5072054-5072087	GM12878	blood:	n/a	n/a
11	FAM48A	chr11:5067158-5067282	GM12878	blood:	n/a	n/a
12	FOS	chr11:5064612-5065090	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:5062130-5062466	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:5062120-5062475	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:5062173-5062481	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:5064630-5064973	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:5062124-5062515	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:5063338-5063704	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:5064601-5064986	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:5063312-5063734	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:5063400-5063698	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:5064613-5064996	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:5063360-5063781	MCF10A-Er-Src	breast:	n/a	n/a
24	JUN	chr11:5062516-5062603	K562	blood:	n/a	n/a
25	JUND	chr11:5062170-5062481	HepG2	liver:	n/a	chr11:5062302-5062313
26	MAFF	chr11:5070654-5070875	HepG2	liver:	n/a	n/a
27	MAFK	chr11:5070648-5070834	HepG2	liver:	n/a	n/a
28	MAFK	chr11:5070645-5070909	HepG2	liver:	n/a	n/a
29	MAFK	chr11:5070653-5070871	IMR90	lung:	n/a	n/a
30	MAX	chr11:5068243-5068496	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr11:5069649-5069849	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr11:5063383-5063677	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:5064735-5064935	NB4	blood:	n/a	n/a
34	MYC	chr11:5070408-5070467	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5069153-5069353	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5065090-5065103	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5068100-5068179	Gliobla	brain:	n/a	n/a
38	POLR2A	chr11:5068050-5068181	ProgFib	skin:	n/a	n/a
39	POLR2A	chr11:5063094-5063177	ProgFib	skin:	n/a	n/a
40	STAT3	chr11:5064689-5064931	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:5064714-5064934	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr11:5069285-5069358	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr11:5066241-5066367	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:5063338-5063687	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:5065426-5065430	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:5062190-5062449	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:5063380-5063598	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:5064664-5064871	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr11:5063338-5063680	MCF10A-Er-Src	breast:	n/a	n/a
50	ZC3H11A	chr11:5062288-5062348	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5067183-5067233	SAEC	small airway:	n/a
2	chr11:5067183-5067233	SAEC	small airway:	n/a
3	chr11:5067183-5067233	HEEpiC	esophagus:	n/a
4	chr11:5067183-5067233	BJ	skin:	n/a
5	chr11:5067039-5067089	MCF10A-Er-Src	breast:	n/a
6	chr11:5067183-5067233	SKMC	muscle:	n/a
7	chr11:5067927-5067977	Caco-2	colon:	n/a
8	chr11:5067927-5067977	K562	blood:	n/a
9	chr11:5067927-5067977	MCF-7	breast:	n/a
10	chr11:5067183-5067233	NT2-D1	testis:	n/a
11	chr11:5067039-5067089	CMK	blood:	n/a
12	chr11:5067927-5067977	HEEpiC	esophagus:	n/a
13	chr11:5067927-5067977	LNCaP	prostate:	n/a
14	chr11:5067183-5067233	HCPEpiC	choroid plexus:	n/a
15	chr11:5067927-5067977	IMR90	lung:	fetal
16	chr11:5067039-5067089	BJ	skin:	n/a
17	chr11:5067927-5067977	Hepatocyte	liver:	n/a
18	chr11:5067039-5067089	HL-60	blood:	n/a
19	chr11:5067183-5067233	HIPEpiC	eye:	n/a
20	chr11:5067039-5067089	ECC-1	luminal epithelium:	n/a
21	chr11:5067183-5067233	HRE	kidney:	n/a
22	chr11:5067927-5067977	BJ	skin:	n/a
23	chr11:5067927-5067977	SKMC	muscle:	n/a
24	chr11:5067183-5067233	NHDF-neo	bronchial:	n/a
25	chr11:5067039-5067089	GM12892	blood:	n/a
26	chr11:5067927-5067977	AG09309	skin:	n/a
27	chr11:5067183-5067233	IMR90	lung:	fetal
28	chr11:5067039-5067089	GM19239	blood:	n/a
29	chr11:5067039-5067089	HAEpiC	amniotic membrane:	n/a
30	chr11:5067039-5067089	AG10803	skin:	n/a
31	chr11:5067927-5067977	SK-N-MC	brain:	n/a
32	chr11:5067927-5067977	AG09319	gingival:	n/a
33	chr11:5067183-5067233	SK-N-SH	brain:	n/a
34	chr11:5067183-5067233	HNPCEpiC	eye:	n/a
35	chr11:5067927-5067977	PrEC	prostate:	n/a
36	chr11:5067927-5067977	HNPCEpiC	eye:	n/a
37	chr11:5067927-5067977	HL-60	blood:	n/a
38	chr11:5067183-5067233	MCF10A-Er-Src	breast:	n/a
39	chr11:5067039-5067089	AG04449	skin:	fetal
40	chr11:5067183-5067233	NH-A	brain:	n/a
41	chr11:5067927-5067977	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:5067039-5067089	Hela-S3	cervix:	n/a
43	chr11:5067039-5067089	GM06990	blood:	n/a
44	chr11:5067927-5067977	HRCEpiC	kidney:	n/a
45	chr11:5067039-5067089	HCM	heart:	n/a
46	chr11:5067927-5067977	NHDF-neo	bronchial:	n/a
47	chr11:5067039-5067089	GM12891	blood:	n/a
48	chr11:5067039-5067089	Hepatocyte	liver:	n/a
49	chr11:5067039-5067089	AG09319	gingival:	n/a
50	chr11:5067183-5067233	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5058379..5061279-chr11:5093640..5097390,3	K562	blood:

No data

Variant related genes	Relation type
OR52J3	TF binding region
OR52J3	CpG island

Extended variants
information (count: 191 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs61880508	chr11:5062840-5062841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2499993	chr11:5062859-5062860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574433561	chr11:5062877-5062878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574767316	chr11:5062887-5062888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2499994	chr11:5062889-5062890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552201300	chr11:5062899-5062900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114611363	chr11:5062904-5062905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192432269	chr11:5062929-5062930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75313360	chr11:5062955-5062956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542438983	chr11:5063102-5063103	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541995654	chr11:5063138-5063139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535254395	chr11:5063185-5063186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554670423	chr11:5063193-5063194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146154625	chr11:5063224-5063225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543450742	chr11:5063253-5063254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565290979	chr11:5063261-5063262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577117487	chr11:5063276-5063277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535727777	chr11:5063283-5063284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58347092	chr11:5063298-5063299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60029117	chr11:5063299-5063300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60139925	chr11:5063301-5063302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562229287	chr11:5063321-5063322	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376832400	chr11:5063393-5063394	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs4910535	chr11:5063418-5063419	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530353893	chr11:5063420-5063421	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534881054	chr11:5063424-5063425	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370162722	chr11:5063451-5063452	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75748438	chr11:5063493-5063494	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs551948295	chr11:5063543-5063544	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2445277	chr11:5063558-5063559	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189382287	chr11:5063560-5063561	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112995481	chr11:5063561-5063562	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181630509	chr11:5063589-5063590	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535310399	chr11:5063592-5063593	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186762980	chr11:5063594-5063595	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546615703	chr11:5063658-5063659	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140162361	chr11:5063744-5063745	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs149776906	chr11:5063754-5063755	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558754056	chr11:5063789-5063790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2499995	chr11:5063790-5063791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113147901	chr11:5063828-5063829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541052363	chr11:5063836-5063837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115487884	chr11:5063855-5063856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61880509	chr11:5063869-5063870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2499996	chr11:5063876-5063877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145695557	chr11:5063880-5063881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532873420	chr11:5063940-5063941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545896123	chr11:5063941-5063942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537595384	chr11:5063942-5063943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564007589	chr11:5063960-5063961	Enhancers	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5062800-5064000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:5064400-5064800	Enhancers	HMEC	breast
3	chr11:5067800-5068200	Enhancers	Placenta	Placenta
4	chr11:5067800-5068200	Enhancers	Gastric	stomach
5	chr11:5068000-5068400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:5068000-5068400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:5068000-5068400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:5068000-5068400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:5068200-5068600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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