Variant report

Variant	nsv1038862
Chromosome Location	chr11:4758179-4807364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:122)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4793218-4793283	K562	blood:	n/a	n/a
2	CCNT2	chr11:4766868-4767027	K562	blood:	n/a	n/a
3	CEBPB	chr11:4769720-4769999	K562	blood:	n/a	n/a
4	CEBPB	chr11:4786195-4786260	HepG2	liver:	n/a	chr11:4786226-4786237
5	CEBPB	chr11:4779256-4779493	HepG2	liver:	n/a	chr11:4779363-4779374
6	CEBPB	chr11:4769682-4770051	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:4769725-4770036	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr11:4802820-4802858	K562	blood:	n/a	chr11:4802839-4802852 chr11:4802839-4802852 chr11:4802841-4802852
9	CEBPB	chr11:4769715-4770029	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:4769714-4769970	A549	lung:	n/a	n/a
11	CTCF	chr11:4804240-4804390	GM06990	blood:	n/a	n/a
12	CTCF	chr11:4804220-4804370	GM12870	blood:	n/a	n/a
13	CTCF	chr11:4804260-4804410	AG04449	skin:	n/a	n/a
14	CTCF	chr11:4804300-4804450	GM12864	blood:	n/a	n/a
15	CTCF	chr11:4804200-4804350	AG04449	skin:	n/a	n/a
16	CTCF	chr11:4804220-4804370	GM12875	blood:	n/a	n/a
17	CTCF	chr11:4804260-4804410	GM12871	blood:	n/a	n/a
18	CTCF	chr11:4804260-4804410	GM12864	blood:	n/a	n/a
19	CTCF	chr11:4804220-4804370	K562	blood:	n/a	n/a
20	CTCF	chr11:4804272-4804394	K562	blood:	n/a	n/a
21	CTCF	chr11:4804240-4804390	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr11:4804278-4804347	GM19239	blood:	n/a	n/a
23	CTCF	chr11:4804246-4804395	GM12892	blood:	n/a	n/a
24	CTCF	chr11:4804240-4804390	GM12869	blood:	n/a	n/a
25	CTCF	chr11:4804240-4804390	GM12872	blood:	n/a	n/a
26	CTCF	chr11:4804220-4804370	GM12865	blood:	n/a	n/a
27	CTCF	chr11:4804247-4804395	IMR90	lung:	n/a	n/a
28	CTCF	chr11:4804260-4804410	GM12874	blood:	n/a	n/a
29	CTCF	chr11:4804255-4804390	GM12891	blood:	n/a	n/a
30	CTCF	chr11:4804220-4804370	GM06990	blood:	n/a	n/a
31	CTCF	chr11:4763238-4763278	GM12878	blood:	n/a	n/a
32	CTCF	chr11:4804200-4804409	K562	blood:	n/a	n/a
33	CTCF	chr11:4804340-4804490	WI-38	lung:	n/a	n/a
34	CTCF	chr11:4804254-4804393	K562	blood:	n/a	n/a
35	CTCF	chr11:4804199-4804444	K562	blood:	n/a	n/a
36	CTCF	chr11:4802939-4802988	ProgFib	skin:	n/a	n/a
37	CTCF	chr11:4804220-4804370	GM12878	blood:	n/a	n/a
38	CTCF	chr11:4804260-4804410	AG04450	lung:	n/a	n/a
39	CTCF	chr11:4804200-4804350	GM12874	blood:	n/a	n/a
40	CTCF	chr11:4804259-4804393	GM12878	blood:	n/a	n/a
41	CTCF	chr11:4802760-4802868	K562	blood:	n/a	n/a
42	CTCF	chr11:4804244-4804343	GM13977	blood:	n/a	n/a
43	CTCF	chr11:4804240-4804390	GM12868	blood:	n/a	n/a
44	CTCF	chr11:4804240-4804390	GM12873	blood:	n/a	n/a
45	CTCF	chr11:4804240-4804390	HEK293	kidney:	n/a	n/a
46	CTCF	chr11:4804260-4804410	GM12872	blood:	n/a	n/a
47	CTCF	chr11:4804220-4804370	GM12864	blood:	n/a	n/a
48	CTCF	chr11:4804220-4804370	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr11:4804160-4804310	GM12867	blood:	n/a	n/a
50	CTCF	chr11:4804280-4804430	GM12871	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4791012-4791062	T-47D	breast:	n/a
2	chr11:4792272-4792322	HEEpiC	esophagus:	n/a
3	chr11:4791012-4791062	NB4	blood:	n/a
4	chr11:4791012-4791062	GM12878	blood:	n/a
5	chr11:4792272-4792322	SK-N-SH_RA	brain:	n/a
6	chr11:4791012-4791062	HEEpiC	esophagus:	n/a
7	chr11:4792272-4792322	Caco-2	colon:	n/a
8	chr11:4792272-4792322	Hepatocyte	liver:	n/a
9	chr11:4791012-4791062	A549	lung:	n/a
10	chr11:4791012-4791062	GM12892	blood:	n/a
11	chr11:4792272-4792322	PrEC	prostate:	n/a
12	chr11:4791012-4791062	U87	brain:	n/a
13	chr11:4792272-4792322	PFSK-1	brain:	n/a
14	chr11:4792272-4792322	IMR90	lung:	fetal
15	chr11:4791012-4791062	Hela-S3	cervix:	n/a
16	chr11:4792272-4792322	GM12891	blood:	n/a
17	chr11:4791012-4791062	BE2_C	brain:	n/a
18	chr11:4792272-4792322	U87	brain:	n/a
19	chr11:4792272-4792322	NH-A	brain:	n/a
20	chr11:4792272-4792322	GM12892	blood:	n/a
21	chr11:4792272-4792322	LNCaP	prostate:	n/a
22	chr11:4792272-4792322	HMEC	breast:	n/a
23	chr11:4791012-4791062	PrEC	prostate:	n/a
24	chr11:4791012-4791062	HCPEpiC	choroid plexus:	n/a
25	chr11:4791012-4791062	RPTEC	kidney:	n/a
26	chr11:4792272-4792322	SK-N-SH	brain:	n/a
27	chr11:4792272-4792322	ECC-1	luminal epithelium:	n/a
28	chr11:4791012-4791062	GM12891	blood:	n/a
29	chr11:4791012-4791062	HMEC	breast:	n/a
30	chr11:4791012-4791062	AoSMC	blood vessel:	n/a
31	chr11:4791012-4791062	NHDF-neo	bronchial:	n/a
32	chr11:4791012-4791062	Hepatocyte	liver:	n/a
33	chr11:4792272-4792322	HIPEpiC	eye:	n/a
34	chr11:4791012-4791062	HCF	heart:	n/a
35	chr11:4792272-4792322	HCF	heart:	n/a
36	chr11:4792272-4792322	HUVEC	blood vessel:	n/a
37	chr11:4791012-4791062	HRPEpiC	eye:	n/a
38	chr11:4791012-4791062	GM19239	blood:	n/a
39	chr11:4792272-4792322	HRE	kidney:	n/a
40	chr11:4792272-4792322	HL-60	blood:	n/a
41	chr11:4792272-4792322	NHBE	bronchial:	n/a
42	chr11:4791012-4791062	CMK	blood:	n/a
43	chr11:4792272-4792322	ovcar-3	ovarian:	n/a
44	chr11:4791012-4791062	K562	blood:	n/a
45	chr11:4792272-4792322	CMK	blood:	n/a
46	chr11:4792272-4792322	HEK293	kidney:	embryo
47	chr11:4792272-4792322	SAEC	small airway:	n/a
48	chr11:4791012-4791062	SK-N-SH	brain:	n/a
49	chr11:4792272-4792322	GM12878	blood:	n/a
50	chr11:4792272-4792322	BE2_C	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4774420-4775061..11:5527719-5533869	GM12878	blood:
2	11:4789513-4794705..11:5033143-5038367	K562	blood:
3	chr11:4758799..4760631-chr11:4763154..4765476,2	K562	blood:
4	11:4794705-4799792..11:5721056-5732713	K562	blood:
5	11:4774420-4775061..11:5714465-5718134	GM12878	blood:
6	11:4789513-4794705..11:4799792-4801044	GM12878	blood:
7	11:4774420-4775061..11:5250847-5268367	GM12878	blood:
8	chr11:4780407..4782336-chr11:4786292..4788948,2	K562	blood:
9	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
10	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
11	chr11:4785049..4787150-chr11:4787794..4789663,2	K562	blood:
12	11:4794705-4799792..11:5527719-5533869	GM12878	blood:
13	chr11:4776926..4782057-chr11:4782402..4785593,4	K562	blood:
14	11:4778081-4789138..11:5033143-5038367	K562	blood:
15	11:4794705-4799792..11:5700314-5707362	K562	blood:
16	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:
17	chr11:4779685..4780186-chr13:39427810..39428310,2	MCF-7	breast:
18	chr11:4778466..4780961-chr11:4783951..4785593,2	K562	blood:
19	chr11:4783931..4787132-chr11:4790389..4793666,3	K562	blood:
20	chr11:4778466..4780961-chr11:4783951..4785593,2	K562	blood:
21	chr11:4758799..4760631-chr11:4763154..4765476,2	K562	blood:
22	chr11:4769802..4772330-chr11:4775914..4778474,2	K562	blood:
23	11:4794705-4799792..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
24	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
25	11:4778081-4789138..11:5740069-5747001	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMP26-1	chr11:4788500-4788571	NONHSAT017654

No data

Variant related genes	Relation type
OR51N1P	TF binding region
ENSG00000201980	TF binding region
OR51F1	TF binding region
OR51F3P	TF binding region
MMP26	TF binding region
OR51F4P	TF binding region
OR51N1P	CpG island
ENSG00000201980	CpG island
OR51F1	CpG island
OR51F3P	CpG island
MMP26	CpG island
OR51F4P	CpG island
ENSG00000132274	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000201980	chromatin interactions
ENSG00000224300	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000236248	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000225003	chromatin interactions
ENSG00000232381	chromatin interactions

Extended variants
information (count: 1559 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368973696	chr11:4759595-4759596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113037064	chr11:4760198-4760199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs386750049	chr11:4760213-4760214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11033632	chr11:4760214-4760215	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11033633	chr11:4760227-4760228	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185161062	chr11:4760252-4760253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs149711262	chr11:4760258-4760259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114474472	chr11:4760261-4760262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542718350	chr11:4760263-4760264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183713275	chr11:4760814-4760815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557201754	chr11:4760821-4760822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554808323	chr11:4760822-4760823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147277815	chr11:4763243-4763244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113734390	chr11:4763245-4763246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577532045	chr11:4763247-4763248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544859911	chr11:4763262-4763263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547827633	chr11:4769806-4769807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376553434	chr11:4769807-4769808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201133803	chr11:4769820-4769821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201815798	chr11:4769821-4769822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79449946	chr11:4769829-4769830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76304755	chr11:4769835-4769836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547341420	chr11:4769836-4769837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565852777	chr11:4769847-4769848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536511146	chr11:4769858-4769859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554809005	chr11:4769869-4769870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200910227	chr11:4769910-4769911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190636048	chr11:4769916-4769917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201497811	chr11:4769925-4769926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143974633	chr11:4769927-4769928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372791053	chr11:4769933-4769934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138784155	chr11:4769934-4769935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183039480	chr11:4769935-4769936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578027720	chr11:4769960-4769961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73393027	chr11:4769980-4769981	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201537557	chr11:4769982-4769983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75632537	chr11:4769990-4769991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572414390	chr11:4770027-4770028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542864546	chr11:4770042-4770043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117196201	chr11:4770058-4770059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111375126	chr11:4770117-4770118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543973998	chr11:4770122-4770123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570310733	chr11:4770187-4770188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564850369	chr11:4770234-4770235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115537538	chr11:4770269-4770270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547088171	chr11:4770274-4770275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541598968	chr11:4770333-4770334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565634603	chr11:4770345-4770346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116815020	chr11:4770382-4770383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548546768	chr11:4770402-4770403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	21293372	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4780400-4781000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:4784000-4784800	Enhancers	GM12878-XiMat	blood
3	chr11:4797800-4798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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