Variant report

Variant	nsv1043316
Chromosome Location	chr11:5847076-5887925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:305)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
2	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
3	CEBPB	chr11:5860791-5861085	HepG2	liver:	n/a	chr11:5860903-5860914 chr11:5861009-5861022
4	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
6	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
7	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
8	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
10	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
12	CTCF	chr11:5851940-5852090	HRE	kidney:	n/a	n/a
13	CTCF	chr11:5857183-5857254	Lung_OC	lung:	n/a	n/a
14	CUX1	chr11:5885690-5885712	GM12878	blood:	n/a	n/a
15	CUX1	chr11:5868005-5868222	K562	blood:	n/a	n/a
16	E2F4	chr11:5860873-5861214	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr11:5852617-5852788	GM12878	blood:	n/a	chr11:5852704-5852715
18	EBF1	chr11:5852638-5852851	GM12878	blood:	n/a	chr11:5852704-5852715
19	FOS	chr11:5859495-5859695	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:5866203-5866313	MCF10A-Er-Src	breast:	n/a	chr11:5866270-5866279
21	FOS	chr11:5859472-5859773	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:5859481-5859658	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:5859452-5859761	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA2	chr11:5867938-5868231	K562	blood:	n/a	n/a
25	GATA3	chr11:5866686-5866880	SH-SY5Y	brain:	n/a	chr11:5866736-5866746
26	JUND	chr11:5859569-5859657	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFYA	chr11:5861168-5861251	GM12878	blood:	n/a	n/a
28	NFYA	chr11:5871139-5871260	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:5855986-5855998	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5869476-5869551	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:5850552-5850687	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:5869992-5870192	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:5874795-5874859	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:5875602-5875721	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5861122-5861243	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5849167-5849190	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5887368-5887448	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:5858691-5859058	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5858673-5858678	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:5882397-5882439	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
42	RCOR1	chr11:5870763-5870771	GM12878	blood:	n/a	n/a
43	SPI1	chr11:5875635-5875791	K562	blood:	n/a	n/a
44	SPI1	chr11:5875526-5875870	HL-60	blood:	n/a	n/a
45	SPI1	chr11:5875626-5875733	GM12878	blood:	n/a	n/a
46	SPI1	chr11:5875598-5875807	GM12891	blood:	n/a	n/a
47	STAT3	chr11:5885927-5886104	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:5849342-5849689	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr11:5859566-5859666	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr11:5855544-5855726	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	chr11:5878958-5879008	HRE	kidney:	n/a
2	chr11:5878955-5879005	HUVEC	blood vessel:	n/a
3	chr11:5862757-5862807	RPTEC	kidney:	n/a
4	chr11:5862757-5862807	LNCaP	prostate:	n/a
5	chr11:5878958-5879008	NT2-D1	testis:	n/a
6	chr11:5862757-5862807	SAEC	small airway:	n/a
7	chr11:5862757-5862807	HMEC	breast:	n/a
8	chr11:5878958-5879008	HMEC	breast:	n/a
9	chr11:5878958-5879008	HUVEC	blood vessel:	n/a
10	chr11:5862757-5862807	Jurkat	blood:	n/a
11	chr11:5878958-5879008	HCF	heart:	n/a
12	chr11:5878019-5878069	HRPEpiC	eye:	n/a
13	chr11:5879799-5879849	NB4	blood:	n/a
14	chr11:5878958-5879008	A549	lung:	n/a
15	chr11:5878958-5879008	GM12891	blood:	n/a
16	chr11:5878955-5879005	PFSK-1	brain:	n/a
17	chr11:5878955-5879005	GM12878	blood:	n/a
18	chr11:5878958-5879008	PANC-1	pancreas:	n/a
19	chr11:5862757-5862807	HepG2	liver:	n/a
20	chr11:5878955-5879005	HCF	heart:	n/a
21	chr11:5879799-5879849	MCF-7	breast:	n/a
22	chr11:5862757-5862807	Hepatocyte	liver:	n/a
23	chr11:5878019-5878069	ovcar-3	ovarian:	n/a
24	chr11:5878019-5878069	ProgFib	skin:	n/a
25	chr11:5878019-5878069	HNPCEpiC	eye:	n/a
26	chr11:5862757-5862807	HNPCEpiC	eye:	n/a
27	chr11:5878955-5879005	HCM	heart:	n/a
28	chr11:5878958-5879008	IMR90	lung:	fetal
29	chr11:5878955-5879005	GM19239	blood:	n/a
30	chr11:5862757-5862807	MCF10A-Er-Src	breast:	n/a
31	chr11:5879799-5879849	BJ	skin:	n/a
32	chr11:5862757-5862807	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:5878958-5879008	BE2_C	brain:	n/a
34	chr11:5878019-5878069	HepG2	liver:	n/a
35	chr11:5878019-5878069	T-47D	breast:	n/a
36	chr11:5878955-5879005	PrEC	prostate:	n/a
37	chr11:5878019-5878069	HEEpiC	esophagus:	n/a
38	chr11:5878958-5879008	HNPCEpiC	eye:	n/a
39	chr11:5862757-5862807	HIPEpiC	eye:	n/a
40	chr11:5862757-5862807	NB4	blood:	n/a
41	chr11:5878019-5878069	AG09309	skin:	n/a
42	chr11:5878958-5879008	LNCaP	prostate:	n/a
43	chr11:5862757-5862807	Hela-S3	cervix:	n/a
44	chr11:5879799-5879849	AG04450	lung:	fetal
45	chr11:5879799-5879849	SK-N-SH	brain:	n/a
46	chr11:5878958-5879008	SK-N-SH	brain:	n/a
47	chr11:5879799-5879849	Caco-2	colon:	n/a
48	chr11:5878955-5879005	AG09309	skin:	n/a
49	chr11:5878958-5879008	GM12878	blood:	n/a
50	chr11:5862757-5862807	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
2	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:
3	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
4	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:

No data

Variant related genes	Relation type
OR52E6	TF binding region
OR52E8	TF binding region
OR52E6	CpG island
OR52E8	CpG island
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000183269	chromatin interactions

Extended variants
information (count: 815 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36003226	chr11:5847644-5847645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541370251	chr11:5847665-5847666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189338140	chr11:5847692-5847693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574450599	chr11:5847783-5847784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11039187	chr11:5847858-5847859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11039188	chr11:5847863-5847864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35586544	chr11:5847903-5847904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181399634	chr11:5847924-5847925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536552959	chr11:5847955-5847956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61875935	chr11:5847961-5847962	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565474267	chr11:5847962-5847963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs207471637	chr11:5847968-5847969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61875936	chr11:5847972-5847973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547472505	chr11:5847973-5847974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185236792	chr11:5847996-5847997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7943035	chr11:5848021-5848022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544225293	chr11:5848037-5848038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548182169	chr11:5848069-5848070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569811276	chr11:5848096-5848097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557724656	chr11:5848119-5848120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537349040	chr11:5848123-5848124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558605426	chr11:5848125-5848126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112689227	chr11:5848134-5848135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189741966	chr11:5848135-5848136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534826096	chr11:5848143-5848144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137960457	chr11:5848180-5848181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181396563	chr11:5848226-5848227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186033225	chr11:5848248-5848249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190021163	chr11:5848264-5848265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575199530	chr11:5848277-5848278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544074584	chr11:5848292-5848293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565477012	chr11:5848302-5848303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532707275	chr11:5848303-5848304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181907832	chr11:5848341-5848342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370315338	chr11:5848454-5848455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559376110	chr11:5848460-5848461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530143715	chr11:5848487-5848488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560612389	chr11:5848508-5848509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548315970	chr11:5848515-5848516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186286864	chr11:5848538-5848539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140929965	chr11:5848583-5848584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560741022	chr11:5848584-5848585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552412144	chr11:5848591-5848592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570675125	chr11:5848607-5848608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144581717	chr11:5848611-5848612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529437243	chr11:5848637-5848638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553210308	chr11:5848655-5848656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370006101	chr11:5848661-5848662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568300202	chr11:5848669-5848670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191064512	chr11:5848683-5848684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5847600-5847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:5847600-5848000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:5847800-5852600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:5851800-5852800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:5852200-5852800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:5852200-5853400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:5852200-5853400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:5852400-5852800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:5852400-5853200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:5852400-5853400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:5852400-5853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:5852600-5853000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:5852600-5853200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:5852800-5853200	Enhancers	Adipose Nuclei	Adipose
15	chr11:5853000-5853400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain
17	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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