Variant report

Variant	nsv896918
Chromosome Location	chr11:4960032-5001570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:305)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

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	chr11:4994751-4994825	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
7	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
8	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
9	CTCF	chr11:4992860-4993010	GM06990	blood:	n/a	n/a
10	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
11	CTCF	chr11:4991600-4991750	Caco-2	colon:	n/a	n/a
12	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
13	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4982121-4982477	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
19	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
20	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
21	JUN	chr11:4989053-4989113	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
23	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
24	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
25	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
26	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
27	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
28	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
29	KAT2A	chr11:4994908-4995108	GM12878	blood:	n/a	n/a
30	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
31	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
32	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
33	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
34	MAFK	chr11:4997305-4997528	HepG2	liver:	n/a	n/a
35	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
36	MYC	chr11:4994445-4994592	MCF10A-Er-Src	breast:	n/a	n/a
37	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
39	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:4982196-4982265	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:4995363-4995415	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:4961274-4961285	MCF10A-Er-Src	breast:	n/a	n/a
47	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
48	RFX5	chr11:4982683-4982763	K562	blood:	n/a	n/a
49	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
50	STAT3	chr11:4982236-4982423	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4977540-4977590	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:4976263-4976313	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:4977429-4977479	SK-N-MC	brain:	n/a
4	chr11:4977540-4977590	PANC-1	pancreas:	n/a
5	chr11:4977540-4977590	MCF-7	breast:	n/a
6	chr11:4977540-4977590	NB4	blood:	n/a
7	chr11:4977540-4977590	SK-N-SH_RA	brain:	n/a
8	chr11:4977429-4977479	AG10803	skin:	n/a
9	chr11:4976263-4976313	HIPEpiC	eye:	n/a
10	chr11:4977540-4977590	NHDF-neo	bronchial:	n/a
11	chr11:4977924-4977974	SKMC	muscle:	n/a
12	chr11:4977924-4977974	SK-N-SH	brain:	n/a
13	chr11:4977001-4977051	HCPEpiC	choroid plexus:	n/a
14	chr11:4976263-4976313	HCM	heart:	n/a
15	chr11:4977540-4977590	SAEC	small airway:	n/a
16	chr11:4976263-4976313	GM12878	blood:	n/a
17	chr11:4977001-4977051	AG10803	skin:	n/a
18	chr11:4977924-4977974	HCF	heart:	n/a
19	chr11:4977924-4977974	PrEC	prostate:	n/a
20	chr11:4977429-4977479	GM12878	blood:	n/a
21	chr11:4977924-4977974	HCM	heart:	n/a
22	chr11:4977540-4977590	RPTEC	kidney:	n/a
23	chr11:4977429-4977479	AoSMC	blood vessel:	n/a
24	chr11:4977540-4977590	HepG2	liver:	n/a
25	chr11:4977429-4977479	CMK	blood:	n/a
26	chr11:4977001-4977051	AG09309	skin:	n/a
27	chr11:4976263-4976313	HCPEpiC	choroid plexus:	n/a
28	chr11:4977429-4977479	BJ	skin:	n/a
29	chr11:4976263-4976313	HepG2	liver:	n/a
30	chr11:4977001-4977051	MCF10A-Er-Src	breast:	n/a
31	chr11:4976263-4976313	PrEC	prostate:	n/a
32	chr11:4977001-4977051	GM12892	blood:	n/a
33	chr11:4977429-4977479	MCF10A-Er-Src	breast:	n/a
34	chr11:4977429-4977479	IMR90	lung:	fetal
35	chr11:4977001-4977051	PANC-1	pancreas:	n/a
36	chr11:4976263-4976313	HRPEpiC	eye:	n/a
37	chr11:4977924-4977974	SK-N-MC	brain:	n/a
38	chr11:4977924-4977974	HNPCEpiC	eye:	n/a
39	chr11:4977924-4977974	HEK293	kidney:	embryo
40	chr11:4977001-4977051	HMEC	breast:	n/a
41	chr11:4976263-4976313	H1-hESC	embryonic stem cell:	embryo
42	chr11:4977429-4977479	HepG2	liver:	n/a
43	chr11:4977001-4977051	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:4977001-4977051	PFSK-1	brain:	n/a
45	chr11:4977924-4977974	AG09309	skin:	n/a
46	chr11:4977540-4977590	AG10803	skin:	n/a
47	chr11:4977540-4977590	HAEpiC	amniotic membrane:	n/a
48	chr11:4977540-4977590	Caco-2	colon:	n/a
49	chr11:4976263-4976313	AG10803	skin:	n/a
50	chr11:4976263-4976313	NHDF-neo	bronchial:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4778081-4789138..11:4979189-4988077	K562	blood:
2	11:4988858-5002113..11:5714465-5718134	Hela-S3	cervix:
3	11:4789513-4794705..11:4979189-4988077	K562	blood:
4	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
5	11:4988858-5002113..11:5600743-5604452	Hela-S3	cervix:
6	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
7	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
8	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
9	11:4940074-4947279..11:4988858-5002113	Hela-S3	cervix:
10	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
11	11:4988858-5002113..11:5469844-5475173	Hela-S3	cervix:
12	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
13	11:4988858-5002113..11:5250847-5268367	Hela-S3	cervix:
14	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:
15	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
16	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
17	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
18	11:4988858-5002113..11:5566274-5571131	Hela-S3	cervix:
19	chr11:4998734..5001673-chr11:5002692..5004874,2	MCF-7	breast:
20	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
21	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
22	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A5P	TF binding region
OR51A2	TF binding region
OR51A3P	TF binding region
OR51A4	CpG island
OR51A5P	CpG island
OR51A2	CpG island
OR51A3P	CpG island
ENSG00000132274	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000181609	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000176879	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000167346	chromatin interactions

Extended variants
information (count: 1077 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1077 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12288920	chr11:4960032-4960033	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112284297	chr11:4960059-4960060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557166856	chr11:4960072-4960073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368307930	chr11:4960073-4960074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536303418	chr11:4960078-4960079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369135554	chr11:4960079-4960080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554592885	chr11:4960085-4960086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192702037	chr11:4960093-4960094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116894438	chr11:4960142-4960143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558965573	chr11:4960189-4960190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569274602	chr11:4960190-4960191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551508138	chr11:4960193-4960194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541274440	chr11:4960264-4960265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553555269	chr11:4960283-4960284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72858191	chr11:4960344-4960345	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527538218	chr11:4960357-4960358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12282202	chr11:4960358-4960359	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72858192	chr11:4960360-4960361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374574005	chr11:4960379-4960380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545753317	chr11:4960380-4960381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564236940	chr11:4960425-4960426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs80355175	chr11:4960545-4960546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147654982	chr11:4960573-4960574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567913841	chr11:4960596-4960597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142456232	chr11:4960640-4960641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113275802	chr11:4960666-4960667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569744280	chr11:4960668-4960669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115846488	chr11:4960686-4960687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113779101	chr11:4960734-4960735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12807351	chr11:4960750-4960751	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147833056	chr11:4960755-4960756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148870948	chr11:4960821-4960822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12807538	chr11:4960843-4960844	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3910265	chr11:4960848-4960849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185049950	chr11:4960880-4960881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557112042	chr11:4960908-4960909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74052649	chr11:4960911-4960912	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113259754	chr11:4960920-4960921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564065278	chr11:4960935-4960936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528425111	chr11:4960953-4960954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367713848	chr11:4960968-4960969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561581021	chr11:4960974-4960975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180941440	chr11:4960989-4960990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs36013257	chr11:4961003-4961004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77791950	chr11:4961020-4961021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557180226	chr11:4961052-4961053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143627952	chr11:4961057-4961058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113484530	chr11:4961065-4961066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570815846	chr11:4961083-4961084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535041117	chr11:4961090-4961091	Inactive region	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 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
2	chr11:4986800-4987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:4987200-4988200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:4988200-4988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:5000200-5001000	Enhancers	Fetal Lung	lung
6	chr11:5000400-5001400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:5001000-5004000	Weak transcription	Fetal Lung	lung

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