Variant report

Variant	nsv515489
Chromosome Location	chr11:5862532-5935103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:428)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 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	chr11:5912394-5912741	K562	blood:	n/a	n/a
2	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
5	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
8	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
9	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
11	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
14	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
15	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
16	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
17	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
18	CTCF	chr11:5912520-5912670	AG04449	skin:	n/a	n/a
19	CTCF	chr11:5912560-5912710	A549	lung:	n/a	n/a
20	CTCF	chr11:5913200-5913350	AG10803	skin:	n/a	n/a
21	CTCF	chr11:5912580-5912730	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr11:5912520-5912670	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a
24	CTCF	chr11:5912567-5912655	HepG2	liver:	n/a	n/a
25	CTCF	chr11:5912500-5912650	GM12872	blood:	n/a	n/a
26	CTCF	chr11:5911440-5911590	SAEC	small airway:	n/a	chr11:5911551-5911559 chr11:5911550-5911558
27	CTCF	chr11:5912765-5912766	Medullo	brain:	n/a	n/a
28	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr11:5912500-5912650	AG04449	skin:	n/a	n/a
30	CTCF	chr11:5912540-5912690	HMF	breast:	n/a	n/a
31	CTCF	chr11:5913160-5913310	BJ	skin:	n/a	n/a
32	CTCF	chr11:5912480-5912630	SAEC	small airway:	n/a	n/a
33	CTCF	chr11:5912760-5912910	GM12865	blood:	n/a	n/a
34	CTCF	chr11:5912915-5913006	GM13977	blood:	n/a	n/a
35	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
36	CTCF	chr11:5912600-5912750	HVMF	connective:	n/a	n/a
37	CTCF	chr11:5912620-5912770	RPTEC	kidney:	n/a	n/a
38	CTCF	chr11:5912560-5912710	GM12875	blood:	n/a	n/a
39	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
40	CTCF	chr11:5912580-5912730	GM12872	blood:	n/a	n/a
41	CTCF	chr11:5912600-5912750	GM12873	blood:	n/a	n/a
42	CTCF	chr11:5912520-5912670	GM12874	blood:	n/a	n/a
43	CTCF	chr11:5912640-5912790	NHLF	lung:	n/a	n/a
44	CTCF	chr11:5912840-5912990	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr11:5912320-5912470	GM12865	blood:	n/a	n/a
46	CTCF	chr11:5912560-5912710	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr11:5912580-5912730	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:5912521-5912725	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr11:5912620-5912770	WI-38	lung:	n/a	n/a
50	CTCF	chr11:5912820-5912970	AG04449	skin:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5862757-5862807	HCF	heart:	n/a
2	chr11:5862757-5862807	HCF	heart:	n/a
3	chr11:5878958-5879008	NT2-D1	testis:	n/a
4	chr11:5862757-5862807	AG09309	skin:	n/a
5	chr11:5905892-5905942	SAEC	small airway:	n/a
6	chr11:5878958-5879008	HEK293	kidney:	embryo
7	chr11:5905892-5905942	IMR90	lung:	fetal
8	chr11:5879799-5879849	NH-A	brain:	n/a
9	chr11:5879799-5879849	BJ	skin:	n/a
10	chr11:5878955-5879005	HCT-116	colon:	n/a
11	chr11:5862757-5862807	HNPCEpiC	eye:	n/a
12	chr11:5878958-5879008	T-47D	breast:	n/a
13	chr11:5878958-5879008	HRCEpiC	kidney:	n/a
14	chr11:5878958-5879008	AG09319	gingival:	n/a
15	chr11:5862757-5862807	MCF-7	breast:	n/a
16	chr11:5905350-5905400	HCPEpiC	choroid plexus:	n/a
17	chr11:5878019-5878069	PANC-1	pancreas:	n/a
18	chr11:5878955-5879005	LNCaP	prostate:	n/a
19	chr11:5905892-5905942	HRCEpiC	kidney:	n/a
20	chr11:5879799-5879849	HCPEpiC	choroid plexus:	n/a
21	chr11:5878019-5878069	MCF-7	breast:	n/a
22	chr11:5862757-5862807	CMK	blood:	n/a
23	chr11:5878958-5879008	AG09309	skin:	n/a
24	chr11:5878019-5878069	T-47D	breast:	n/a
25	chr11:5879799-5879849	GM12878	blood:	n/a
26	chr11:5862757-5862807	U87	brain:	n/a
27	chr11:5905892-5905942	T-47D	breast:	n/a
28	chr11:5905892-5905942	NB4	blood:	n/a
29	chr11:5878955-5879005	HEK293	kidney:	embryo
30	chr11:5878955-5879005	NT2-D1	testis:	n/a
31	chr11:5862757-5862807	ovcar-3	ovarian:	n/a
32	chr11:5905350-5905400	MCF10A-Er-Src	breast:	n/a
33	chr11:5905892-5905942	HIPEpiC	eye:	n/a
34	chr11:5878955-5879005	HRPEpiC	eye:	n/a
35	chr11:5905350-5905400	Jurkat	blood:	n/a
36	chr11:5862757-5862807	HMEC	breast:	n/a
37	chr11:5905350-5905400	A549	lung:	n/a
38	chr11:5905350-5905400	HRCEpiC	kidney:	n/a
39	chr11:5878955-5879005	AG10803	skin:	n/a
40	chr11:5878958-5879008	U87	brain:	n/a
41	chr11:5878958-5879008	HEEpiC	esophagus:	n/a
42	chr11:5878955-5879005	SAEC	small airway:	n/a
43	chr11:5905350-5905400	GM12892	blood:	n/a
44	chr11:5878955-5879005	Jurkat	blood:	n/a
45	chr11:5878955-5879005	PANC-1	pancreas:	n/a
46	chr11:5905350-5905400	HUVEC	blood vessel:	n/a
47	chr11:5878955-5879005	GM06990	blood:	n/a
48	chr11:5879799-5879849	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:5878958-5879008	HRE	kidney:	n/a
50	chr11:5879799-5879849	GM06990	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
2	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
3	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:
4	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
5	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
6	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
7	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
8	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
9	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR52E7P	TF binding region
OR52E6	TF binding region
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	CpG island
OR52E6	CpG island
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
ENSG00000183269	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000233563	chromatin interactions

Extended variants
information (count: 989 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10742809	chr11:5862532-5862533	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199724169	chr11:5862566-5862567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369185989	chr11:5862588-5862589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200669717	chr11:5862607-5862608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186181055	chr11:5862608-5862609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117588627	chr11:5862612-5862613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191900000	chr11:5862618-5862619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7943698	chr11:5862619-5862620	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377318267	chr11:5862621-5862622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370635171	chr11:5862633-5862634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544618978	chr11:5862649-5862650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4357719	chr11:5862653-5862654	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536337832	chr11:5862667-5862668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533328440	chr11:5862703-5862704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554722938	chr11:5862709-5862710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373651554	chr11:5862714-5862715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200675437	chr11:5862717-5862718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372198368	chr11:5862729-5862730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10838719	chr11:5862731-5862732	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368477824	chr11:5862754-5862755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs61737712	chr11:5862758-5862759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs267603030	chr11:5862777-5862778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4362172	chr11:5862780-5862781	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs371743507	chr11:5862783-5862784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200729945	chr11:5862797-5862798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370082903	chr11:5862807-5862808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373050179	chr11:5862829-5862830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369883736	chr11:5862830-5862831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368058371	chr11:5862835-5862836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145073549	chr11:5862836-5862837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs267603031	chr11:5862844-5862845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4592451	chr11:5862845-5862846	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201073329	chr11:5862869-5862870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183526065	chr11:5862872-5862873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369998923	chr11:5862880-5862881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151316251	chr11:5862894-5862895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs202167540	chr11:5862897-5862898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139412237	chr11:5862898-5862899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368548347	chr11:5862908-5862909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371265942	chr11:5862928-5862929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4495918	chr11:5862937-5862938	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368112349	chr11:5862962-5862963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61739208	chr11:5862965-5862966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565704528	chr11:5862974-5862975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10769272	chr11:5862984-5862985	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367705230	chr11:5862989-5862990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs61737905	chr11:5862995-5862996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575304106	chr11:5864145-5864146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545967231	chr11:5864151-5864152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4369440	chr11:5864177-5864178	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain
2	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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