Variant report

Variant	nsv1054610
Chromosome Location	chr11:4953844-5004203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:305)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 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	chr11:4958017-4958334	A549	lung:	n/a	chr11:4958174-4958185
5	CEBPB	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
6	CEBPB	chr11:4994751-4994825	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:4958016-4958348	K562	blood:	n/a	chr11:4958174-4958185
8	CEBPB	chr11:4959000-4959212	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
10	CEBPB	chr11:4958009-4958329	HepG2	liver:	n/a	chr11:4958174-4958185
11	CEBPB	chr11:4958003-4958355	IMR90	lung:	n/a	chr11:4958174-4958185
12	CEBPB	chr11:4982771-4982949	A549	lung:	n/a	chr11:4982850-4982861
13	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
14	CEBPB	chr11:4958099-4958325	H1-hESC	embryonic stem cell:	n/a	chr11:4958174-4958185
15	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
16	CTCF	chr11:4958741-4958772	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:4992860-4993010	GM06990	blood:	n/a	n/a
18	CTCF	chr11:4991600-4991750	Caco-2	colon:	n/a	n/a
19	CTCF	chr11:4959520-4959551	Lung_OC	lung:	n/a	n/a
20	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
21	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:4982121-4982477	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
27	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
28	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
29	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
30	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
31	JUN	chr11:4989053-4989113	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
33	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
34	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
35	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
36	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
37	KAT2A	chr11:4994908-4995108	GM12878	blood:	n/a	n/a
38	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
39	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
40	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
41	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
42	MAFK	chr11:4997305-4997528	HepG2	liver:	n/a	n/a
43	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
44	MYC	chr11:4958714-4958817	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr11:4994445-4994592	MCF10A-Er-Src	breast:	n/a	n/a
46	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
48	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:4995363-4995415	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	chr11:4977429-4977479	AG10803	skin:	n/a
2	chr11:4977540-4977590	NH-A	brain:	n/a
3	chr11:4977429-4977479	HRE	kidney:	n/a
4	chr11:4977429-4977479	IMR90	lung:	fetal
5	chr11:4977001-4977051	HRE	kidney:	n/a
6	chr11:4977429-4977479	U87	brain:	n/a
7	chr11:4977540-4977590	BJ	skin:	n/a
8	chr11:4977001-4977051	GM12892	blood:	n/a
9	chr11:4977540-4977590	HEK293	kidney:	embryo
10	chr11:4977001-4977051	HNPCEpiC	eye:	n/a
11	chr11:4976263-4976313	HIPEpiC	eye:	n/a
12	chr11:4977001-4977051	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:4977924-4977974	NB4	blood:	n/a
14	chr11:4977924-4977974	NHBE	bronchial:	n/a
15	chr11:4977429-4977479	MCF10A-Er-Src	breast:	n/a
16	chr11:4976263-4976313	PFSK-1	brain:	n/a
17	chr11:4977429-4977479	HEEpiC	esophagus:	n/a
18	chr11:4977001-4977051	MCF-7	breast:	n/a
19	chr11:4977924-4977974	BJ	skin:	n/a
20	chr11:4976263-4976313	HNPCEpiC	eye:	n/a
21	chr11:4977924-4977974	ProgFib	skin:	n/a
22	chr11:4977924-4977974	SK-N-MC	brain:	n/a
23	chr11:4977924-4977974	AG04449	skin:	fetal
24	chr11:4977001-4977051	Hepatocyte	liver:	n/a
25	chr11:4977429-4977479	GM06990	blood:	n/a
26	chr11:4977924-4977974	PFSK-1	brain:	n/a
27	chr11:4977001-4977051	ECC-1	luminal epithelium:	n/a
28	chr11:4977429-4977479	SK-N-MC	brain:	n/a
29	chr11:4976263-4976313	HRPEpiC	eye:	n/a
30	chr11:4977540-4977590	SKMC	muscle:	n/a
31	chr11:4977540-4977590	HIPEpiC	eye:	n/a
32	chr11:4977429-4977479	K562	blood:	n/a
33	chr11:4977924-4977974	HCF	heart:	n/a
34	chr11:4977924-4977974	GM06990	blood:	n/a
35	chr11:4977001-4977051	HRPEpiC	eye:	n/a
36	chr11:4976263-4976313	LNCaP	prostate:	n/a
37	chr11:4977001-4977051	CMK	blood:	n/a
38	chr11:4977001-4977051	ProgFib	skin:	n/a
39	chr11:4977001-4977051	Caco-2	colon:	n/a
40	chr11:4977540-4977590	GM12891	blood:	n/a
41	chr11:4977429-4977479	AG09319	gingival:	n/a
42	chr11:4977540-4977590	K562	blood:	n/a
43	chr11:4976263-4976313	GM12878	blood:	n/a
44	chr11:4976263-4976313	NH-A	brain:	n/a
45	chr11:4977924-4977974	ECC-1	luminal epithelium:	n/a
46	chr11:4977001-4977051	NHDF-neo	bronchial:	n/a
47	chr11:4976263-4976313	AG10803	skin:	n/a
48	chr11:4977429-4977479	HAEpiC	amniotic membrane:	n/a
49	chr11:4977001-4977051	SK-N-SH_RA	brain:	n/a
50	chr11:4977001-4977051	NB4	blood:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:
2	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
3	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
4	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
5	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
6	chr11:4998734..5001673-chr11:5002692..5004874,2	MCF-7	breast:
7	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:
8	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
9	11:4789513-4794705..11:4979189-4988077	K562	blood:
10	11:4988858-5002113..11:5469844-5475173	Hela-S3	cervix:
11	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
12	chr11:5002701..5004789-chr11:5011037..5012979,2	K562	blood:
13	chr11:4998734..5001673-chr11:5002692..5004874,2	MCF-7	breast:
14	11:4940074-4947279..11:4988858-5002113	Hela-S3	cervix:
15	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
16	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
17	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
18	11:4988858-5002113..11:5566274-5571131	Hela-S3	cervix:
19	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
20	11:4988858-5002113..11:5600743-5604452	Hela-S3	cervix:
21	11:4988858-5002113..11:5250847-5268367	Hela-S3	cervix:
22	11:4988858-5002113..11:5714465-5718134	Hela-S3	cervix:
23	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
24	11:4778081-4789138..11:4979189-4988077	K562	blood:

No data

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

Extended variants
information (count: 1346 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141433132	chr11:4953854-4953855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386750075	chr11:4953946-4953947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188090219	chr11:4953958-4953959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536795771	chr11:4954089-4954090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192954826	chr11:4954120-4954121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576057065	chr11:4954159-4954160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs840719	chr11:4957293-4957294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544127721	chr11:4957368-4957369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562464069	chr11:4957404-4957405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533022481	chr11:4957415-4957416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544883788	chr11:4957416-4957417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560244643	chr11:4957417-4957418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200739695	chr11:4957500-4957501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201386904	chr11:4957501-4957502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367683932	chr11:4957542-4957543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs5007085	chr11:4957550-4957551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372084668	chr11:4957568-4957569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569589590	chr11:4957591-4957592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540086450	chr11:4957593-4957594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200939580	chr11:4957612-4957613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142388564	chr11:4957623-4957624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11034725	chr11:4957638-4957639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533691899	chr11:4957640-4957641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11034726	chr11:4957643-4957644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145962609	chr11:4957645-4957646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537462524	chr11:4957656-4957657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555699086	chr11:4957677-4957678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577517340	chr11:4957702-4957703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115101043	chr11:4957704-4957705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560126981	chr11:4957741-4957742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369023014	chr11:4957742-4957743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572192627	chr11:4957752-4957753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540402556	chr11:4957760-4957761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370696155	chr11:4957762-4957763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370060535	chr11:4957770-4957771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190410969	chr11:4957781-4957782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138797481	chr11:4957806-4957807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564481164	chr11:4957841-4957842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11034727	chr11:4957856-4957857	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141365053	chr11:4957871-4957872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11034728	chr11:4957878-4957879	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552042823	chr11:4957883-4957884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550783045	chr11:4957885-4957886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181440256	chr11:4957886-4957887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112911285	chr11:4957887-4957888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539328498	chr11:4957912-4957913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10836973	chr11:4957919-4957920	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567030640	chr11:4957955-4957956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533233332	chr11:4958031-4958032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs16907537	chr11:4958090-4958091	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4953800-4954200	Enhancers	K562	blood
2	chr11:4983800-4984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:4986800-4987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:4987200-4988200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:4988200-4988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:5000200-5001000	Enhancers	Fetal Lung	lung
7	chr11:5000400-5001400	Enhancers	Fetal Muscle Leg	muscle
8	chr11:5001000-5004000	Weak transcription	Fetal Lung	lung
9	chr11:5002600-5005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:5004000-5005800	Enhancers	Fetal Lung	lung

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