Variant report

Variant	nsv825754
Chromosome Location	chr11:5892154-5946398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:286)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
5	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
6	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
8	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
10	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
12	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
13	CTCF	chr11:5912538-5912688	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:5912520-5912670	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr11:5919130-5919212	Lung_OC	lung:	n/a	n/a
16	CTCF	chr11:5912580-5912730	RPTEC	kidney:	n/a	n/a
17	CTCF	chr11:5912560-5912710	A549	lung:	n/a	n/a
18	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
19	CTCF	chr11:5912700-5912850	NB4	blood:	n/a	n/a
20	CTCF	chr11:5912812-5912822	GM19240	blood:	n/a	n/a
21	CTCF	chr11:5912940-5913090	GM12867	blood:	n/a	n/a
22	CTCF	chr11:5912420-5912570	HCT-116	colon:	n/a	n/a
23	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr11:5901160-5901310	WI-38	lung:	n/a	n/a
25	CTCF	chr11:5912640-5912790	SAEC	small airway:	n/a	n/a
26	CTCF	chr11:5912720-5912870	WI-38	lung:	n/a	n/a
27	CTCF	chr11:5911940-5912090	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr11:5912580-5912730	GM12864	blood:	n/a	n/a
29	CTCF	chr11:5912540-5912690	HepG2	liver:	n/a	n/a
30	CTCF	chr11:5912420-5912570	NHLF	lung:	n/a	n/a
31	CTCF	chr11:5912520-5912670	GM12868	blood:	n/a	n/a
32	CTCF	chr11:5912540-5912690	AG09309	skin:	n/a	n/a
33	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
34	CTCF	chr11:5912500-5912650	HL-60	blood:	n/a	n/a
35	CTCF	chr11:5912500-5912650	GM12870	blood:	n/a	n/a
36	CTCF	chr11:5912480-5912630	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr11:5912500-5912650	GM12872	blood:	n/a	n/a
38	CTCF	chr11:5912880-5913030	GM12868	blood:	n/a	n/a
39	CTCF	chr11:5912520-5912670	AG09319	gingival:	n/a	n/a
40	CTCF	chr11:5912600-5912750	BJ	skin:	n/a	n/a
41	CTCF	chr11:5912520-5912670	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr11:5912620-5912770	HCM	heart:	n/a	n/a
43	CTCF	chr11:5912620-5912770	RPTEC	kidney:	n/a	n/a
44	CTCF	chr11:5912860-5913010	GM12873	blood:	n/a	n/a
45	CTCF	chr11:5912521-5912725	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr11:5912640-5912790	HAc	cerebellar:	n/a	n/a
47	CTCF	chr11:5912640-5912790	HCM	heart:	n/a	n/a
48	CTCF	chr11:5912540-5912715	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
50	CTCF	chr11:5912560-5912710	HRPEpiC	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905892-5905942	T-47D	breast:	n/a
2	chr11:5905892-5905942	NH-A	brain:	n/a
3	chr11:5905350-5905400	U87	brain:	n/a
4	chr11:5905350-5905400	GM12891	blood:	n/a
5	chr11:5905350-5905400	SK-N-SH	brain:	n/a
6	chr11:5905350-5905400	AG09309	skin:	n/a
7	chr11:5905350-5905400	MCF10A-Er-Src	breast:	n/a
8	chr11:5905350-5905400	IMR90	lung:	fetal
9	chr11:5905350-5905400	HIPEpiC	eye:	n/a
10	chr11:5905350-5905400	AG04449	skin:	fetal
11	chr11:5905350-5905400	HNPCEpiC	eye:	n/a
12	chr11:5905892-5905942	Jurkat	blood:	n/a
13	chr11:5905892-5905942	GM12878	blood:	n/a
14	chr11:5905350-5905400	HCPEpiC	choroid plexus:	n/a
15	chr11:5905892-5905942	ovcar-3	ovarian:	n/a
16	chr11:5905892-5905942	MCF10A-Er-Src	breast:	n/a
17	chr11:5905350-5905400	MCF-7	breast:	n/a
18	chr11:5905350-5905400	GM12892	blood:	n/a
19	chr11:5905892-5905942	GM12892	blood:	n/a
20	chr11:5905350-5905400	RPTEC	kidney:	n/a
21	chr11:5905350-5905400	PANC-1	pancreas:	n/a
22	chr11:5905892-5905942	U87	brain:	n/a
23	chr11:5905892-5905942	CMK	blood:	n/a
24	chr11:5905892-5905942	HUVEC	blood vessel:	n/a
25	chr11:5905892-5905942	AG09309	skin:	n/a
26	chr11:5905892-5905942	GM12891	blood:	n/a
27	chr11:5905892-5905942	HCT-116	colon:	n/a
28	chr11:5905350-5905400	HEEpiC	esophagus:	n/a
29	chr11:5905892-5905942	HIPEpiC	eye:	n/a
30	chr11:5905350-5905400	GM19239	blood:	n/a
31	chr11:5905350-5905400	HCT-116	colon:	n/a
32	chr11:5905350-5905400	HUVEC	blood vessel:	n/a
33	chr11:5905350-5905400	HepG2	liver:	n/a
34	chr11:5905350-5905400	BE2_C	brain:	n/a
35	chr11:5905892-5905942	NHBE	bronchial:	n/a
36	chr11:5905892-5905942	PrEC	prostate:	n/a
37	chr11:5905892-5905942	HRPEpiC	eye:	n/a
38	chr11:5905892-5905942	GM06990	blood:	n/a
39	chr11:5905892-5905942	SK-N-SH	brain:	n/a
40	chr11:5905892-5905942	NHDF-neo	bronchial:	n/a
41	chr11:5905892-5905942	PFSK-1	brain:	n/a
42	chr11:5905350-5905400	PFSK-1	brain:	n/a
43	chr11:5905350-5905400	NHDF-neo	bronchial:	n/a
44	chr11:5905892-5905942	SK-N-MC	brain:	n/a
45	chr11:5905350-5905400	Hela-S3	cervix:	n/a
46	chr11:5905350-5905400	AG10803	skin:	n/a
47	chr11:5905892-5905942	SK-N-SH_RA	brain:	n/a
48	chr11:5905892-5905942	NT2-D1	testis:	n/a
49	chr11:5905892-5905942	HCM	heart:	n/a
50	chr11:5905892-5905942	Caco-2	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
2	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
3	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
4	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
5	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:

No data

Variant related genes	Relation type
OR52E4	TF binding region
TRIM5	TF binding region
OR52E7P	TF binding region
OR52E4	CpG island
TRIM5	CpG island
OR52E7P	CpG island
ENSG00000132256	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148935569	chr11:5892723-5892724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546611487	chr11:5892726-5892727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549011997	chr11:5892753-5892754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2880583	chr11:5893689-5893690	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112512776	chr11:5893703-5893704	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs137902599	chr11:5893720-5893721	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs7109997	chr11:5893739-5893740	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs113569860	chr11:5893757-5893758	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs540239681	chr11:5893769-5893770	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs148587340	chr11:5893909-5893910	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs531731127	chr11:5893917-5893918	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs376024328	chr11:5895712-5895713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552092892	chr11:5895730-5895731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564696898	chr11:5895753-5895754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10838772	chr11:5895754-5895755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542257488	chr11:5895791-5895792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563235443	chr11:5895867-5895868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530727373	chr11:5895878-5895879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113958938	chr11:5895895-5895896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117674939	chr11:5895912-5895913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543688146	chr11:5895934-5895935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180751086	chr11:5895980-5895981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372421124	chr11:5896000-5896001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185407526	chr11:5896001-5896002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567423691	chr11:5896005-5896006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563361403	chr11:5896006-5896007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146161099	chr11:5896016-5896017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549108066	chr11:5896033-5896034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569339398	chr11:5896054-5896055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370230218	chr11:5896068-5896069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79196640	chr11:5896096-5896097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537760486	chr11:5896141-5896142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138042691	chr11:5896143-5896144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74234697	chr11:5896144-5896145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10644513	chr11:5896145-5896146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140126296	chr11:5896169-5896170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552021674	chr11:5896241-5896242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571039095	chr11:5896242-5896243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570467961	chr11:5896256-5896257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576551110	chr11:5896294-5896295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79366346	chr11:5896296-5896297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189382940	chr11:5896320-5896321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571841269	chr11:5896333-5896334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7108512	chr11:5896374-5896375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574919807	chr11:5896382-5896383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142183588	chr11:5896384-5896385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200389712	chr11:5896387-5896388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556941992	chr11:5896417-5896418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201389419	chr11:5896443-5896444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201942554	chr11:5896445-5896446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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