Variant report

Variant	nsv976448
Chromosome Location	chr11:5054676-5071343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:5059379-5059473	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr11:5055287-5055292	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:5057650-5057850	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:5067976-5068359	K562	blood:	n/a	chr11:5068152-5068163
5	CEBPB	chr11:5067985-5068302	Hela-S3	cervix:	n/a	chr11:5068152-5068163
6	CEBPB	chr11:5067979-5068344	A549	lung:	n/a	chr11:5068152-5068163
7	CEBPB	chr11:5064630-5064974	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:5057661-5057772	A549	lung:	n/a	n/a
9	CEBPB	chr11:5064651-5065002	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:5067975-5068346	HepG2	liver:	n/a	chr11:5068152-5068163
11	CEBPB	chr11:5067969-5068355	H1-hESC	embryonic stem cell:	n/a	chr11:5068152-5068163
12	CEBPB	chr11:5067979-5068337	IMR90	lung:	n/a	chr11:5068152-5068163
13	CTCF	chr11:5068300-5068450	GM12868	blood:	n/a	n/a
14	E2F4	chr11:5059751-5059915	MCF10A-Er-Src	breast:	n/a	n/a
15	FAM48A	chr11:5067158-5067282	GM12878	blood:	n/a	n/a
16	FOS	chr11:5063312-5063734	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:5057829-5057945	MCF10A-Er-Src	breast:	n/a	chr11:5057871-5057883
18	FOS	chr11:5064613-5064996	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:5062173-5062481	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:5063360-5063781	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:5057672-5057872	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:5064612-5065090	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:5063400-5063698	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:5064630-5064973	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:5062124-5062515	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:5063338-5063704	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:5062120-5062475	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:5062130-5062466	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:5064601-5064986	MCF10A-Er-Src	breast:	n/a	n/a
30	IRF1	chr11:5057133-5057139	K562	blood:	n/a	n/a
31	JUN	chr11:5062516-5062603	K562	blood:	n/a	n/a
32	JUND	chr11:5062170-5062481	HepG2	liver:	n/a	chr11:5062302-5062313
33	MAFF	chr11:5059147-5059506	HepG2	liver:	n/a	chr11:5059307-5059325
34	MAFF	chr11:5070654-5070875	HepG2	liver:	n/a	n/a
35	MAFF	chr11:5059153-5059478	K562	blood:	n/a	chr11:5059307-5059325
36	MAFK	chr11:5059142-5059505	HepG2	liver:	n/a	chr11:5059403-5059414 chr11:5059309-5059324
37	MAFK	chr11:5059173-5059442	K562	blood:	n/a	chr11:5059403-5059414 chr11:5059309-5059324
38	MAFK	chr11:5059139-5059499	HepG2	liver:	n/a	chr11:5059403-5059414 chr11:5059309-5059324
39	MAFK	chr11:5070653-5070871	IMR90	lung:	n/a	n/a
40	MAFK	chr11:5059139-5059486	IMR90	lung:	n/a	chr11:5059403-5059414 chr11:5059309-5059324
41	MAFK	chr11:5059172-5059497	H1-hESC	embryonic stem cell:	n/a	chr11:5059403-5059414 chr11:5059309-5059324
42	MAFK	chr11:5070648-5070834	HepG2	liver:	n/a	n/a
43	MAFK	chr11:5070645-5070909	HepG2	liver:	n/a	n/a
44	MAX	chr11:5068243-5068496	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr11:5070408-5070467	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr11:5069649-5069849	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr11:5057687-5057886	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr11:5063383-5063677	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr11:5064735-5064935	NB4	blood:	n/a	n/a
50	POLR2A	chr11:5058577-5058592	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5067927-5067977	SK-N-SH_RA	brain:	n/a
2	chr11:5067927-5067977	A549	lung:	n/a
3	chr11:5067927-5067977	NHBE	bronchial:	n/a
4	chr11:5067183-5067233	GM06990	blood:	n/a
5	chr11:5067039-5067089	HCF	heart:	n/a
6	chr11:5067039-5067089	NT2-D1	testis:	n/a
7	chr11:5067927-5067977	BJ	skin:	n/a
8	chr11:5067183-5067233	SK-N-SH_RA	brain:	n/a
9	chr11:5067039-5067089	AG09319	gingival:	n/a
10	chr11:5067039-5067089	SAEC	small airway:	n/a
11	chr11:5067183-5067233	AG09309	skin:	n/a
12	chr11:5067039-5067089	SKMC	muscle:	n/a
13	chr11:5067927-5067977	SKMC	muscle:	n/a
14	chr11:5067183-5067233	HCM	heart:	n/a
15	chr11:5067039-5067089	PrEC	prostate:	n/a
16	chr11:5067039-5067089	GM12891	blood:	n/a
17	chr11:5067039-5067089	H1-hESC	embryonic stem cell:	embryo
18	chr11:5067183-5067233	HCPEpiC	choroid plexus:	n/a
19	chr11:5067039-5067089	HepG2	liver:	n/a
20	chr11:5067039-5067089	SK-N-SH_RA	brain:	n/a
21	chr11:5067927-5067977	NH-A	brain:	n/a
22	chr11:5067927-5067977	AG04449	skin:	fetal
23	chr11:5067039-5067089	HRCEpiC	kidney:	n/a
24	chr11:5067039-5067089	HCT-116	colon:	n/a
25	chr11:5067183-5067233	NT2-D1	testis:	n/a
26	chr11:5067039-5067089	GM12892	blood:	n/a
27	chr11:5067039-5067089	HCM	heart:	n/a
28	chr11:5067927-5067977	AoSMC	blood vessel:	n/a
29	chr11:5067183-5067233	HEEpiC	esophagus:	n/a
30	chr11:5067039-5067089	HAEpiC	amniotic membrane:	n/a
31	chr11:5067183-5067233	ECC-1	luminal epithelium:	n/a
32	chr11:5067039-5067089	PFSK-1	brain:	n/a
33	chr11:5067927-5067977	RPTEC	kidney:	n/a
34	chr11:5067039-5067089	SK-N-MC	brain:	n/a
35	chr11:5067183-5067233	MCF-7	breast:	n/a
36	chr11:5067927-5067977	SK-N-SH	brain:	n/a
37	chr11:5067927-5067977	HL-60	blood:	n/a
38	chr11:5067927-5067977	LNCaP	prostate:	n/a
39	chr11:5067927-5067977	SAEC	small airway:	n/a
40	chr11:5067183-5067233	HepG2	liver:	n/a
41	chr11:5067183-5067233	NHBE	bronchial:	n/a
42	chr11:5067039-5067089	Hepatocyte	liver:	n/a
43	chr11:5067039-5067089	GM12878	blood:	n/a
44	chr11:5067927-5067977	HNPCEpiC	eye:	n/a
45	chr11:5067927-5067977	K562	blood:	n/a
46	chr11:5067183-5067233	Caco-2	colon:	n/a
47	chr11:5067927-5067977	NB4	blood:	n/a
48	chr11:5067039-5067089	Caco-2	colon:	n/a
49	chr11:5067927-5067977	BE2_C	brain:	n/a
50	chr11:5067183-5067233	BJ	skin:	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
OR52J2P	TF binding region
OR52J3	CpG island
OR52J2P	CpG island

Extended variants
information (count: 245 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs75559211	chr11:5056054-5056055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573111520	chr11:5056055-5056056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375760575	chr11:5056159-5056160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201928783	chr11:5056182-5056183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2499968	chr11:5056346-5056347	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572021997	chr11:5056356-5056357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533810363	chr11:5056361-5056362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560711734	chr11:5056366-5056367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549739055	chr11:5057039-5057040	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370086480	chr11:5057065-5057066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183036470	chr11:5057074-5057075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538937655	chr11:5057076-5057077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs141316111	chr11:5057103-5057104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566143605	chr11:5057116-5057117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs530266771	chr11:5057678-5057679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538881340	chr11:5057703-5057704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs1455952	chr11:5057704-5057705	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537136642	chr11:5057720-5057721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558648597	chr11:5057746-5057747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371525516	chr11:5057776-5057777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572414589	chr11:5057778-5057779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2445266	chr11:5057828-5057829	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534574877	chr11:5057845-5057846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553025384	chr11:5057916-5057917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574653477	chr11:5057924-5057925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541703191	chr11:5057928-5057929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs560597470	chr11:5057942-5057943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568301966	chr11:5058414-5058415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535750093	chr11:5058415-5058416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372944850	chr11:5058423-5058424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567695843	chr11:5058433-5058434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375950474	chr11:5058474-5058475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112599800	chr11:5058477-5058478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77089040	chr11:5058478-5058479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114698611	chr11:5058490-5058491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376989872	chr11:5058493-5058494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2445268	chr11:5058517-5058518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140278887	chr11:5058527-5058528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574704452	chr11:5058541-5058542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184986595	chr11:5058586-5058587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs207471631	chr11:5058601-5058602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2499970	chr11:5058616-5058617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs531146593	chr11:5058621-5058622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2445269	chr11:5058664-5058665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75179892	chr11:5058666-5058667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570273589	chr11:5058670-5058671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546335982	chr11:5058675-5058676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2445270	chr11:5058696-5058697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189660805	chr11:5058725-5058726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558595484	chr11:5058744-5058745	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5058400-5058800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:5062800-5064000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:5064400-5064800	Enhancers	HMEC	breast
4	chr11:5067800-5068200	Enhancers	Placenta	Placenta
5	chr11:5067800-5068200	Enhancers	Gastric	stomach
6	chr11:5068000-5068400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:5068000-5068400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:5068000-5068400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:5068000-5068400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:5068200-5068600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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