Variant report

Variant	esv2752503
Chromosome Location	chr11:5885711-5934044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 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	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
5	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
6	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
8	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
9	CTCF	chr11:5903547-5903571	ProgFib	skin:	n/a	n/a
10	CTCF	chr11:5912560-5912710	Caco-2	colon:	n/a	n/a
11	CTCF	chr11:5912540-5912690	HepG2	liver:	n/a	n/a
12	CTCF	chr11:5912620-5912770	WI-38	lung:	n/a	n/a
13	CTCF	chr11:5912498-5912742	Medullo	brain:	n/a	n/a
14	CTCF	chr11:5912640-5912790	NHLF	lung:	n/a	n/a
15	CTCF	chr11:5912540-5912690	GM12865	blood:	n/a	n/a
16	CTCF	chr11:5912500-5912650	AG04449	skin:	n/a	n/a
17	CTCF	chr11:5912519-5912693	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:5912560-5912710	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr11:5912580-5912730	BJ	skin:	n/a	n/a
20	CTCF	chr11:5912560-5912710	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr11:5912520-5912670	AG04449	skin:	n/a	n/a
22	CTCF	chr11:5912500-5912650	HL-60	blood:	n/a	n/a
23	CTCF	chr11:5912829-5912848	GM12892	blood:	n/a	n/a
24	CTCF	chr11:5912520-5912670	GM12873	blood:	n/a	n/a
25	CTCF	chr11:5912520-5912670	AG09309	skin:	n/a	n/a
26	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a
27	CTCF	chr11:5912560-5912710	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr11:5912487-5912745	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr11:5912540-5912690	HCFaa	heart:	n/a	n/a
31	CTCF	chr11:5912740-5912890	HAc	cerebellar:	n/a	n/a
32	CTCF	chr11:5912520-5912670	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr11:5912560-5912710	GM12865	blood:	n/a	n/a
34	CTCF	chr11:5912540-5912690	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr11:5912873-5912903	Gliobla	brain:	n/a	n/a
36	CTCF	chr11:5912802-5912984	GM19238	blood:	n/a	n/a
37	CTCF	chr11:5912567-5912655	HepG2	liver:	n/a	n/a
38	CTCF	chr11:5912380-5912530	HFF	foreskin:	n/a	n/a
39	CTCF	chr11:5912520-5912670	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:5912560-5912710	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:5912720-5912870	WI-38	lung:	n/a	n/a
42	CTCF	chr11:5912520-5912670	HVMF	connective:	n/a	n/a
43	CTCF	chr11:5912527-5912699	Lung_OC	lung:	n/a	n/a
44	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr11:5912580-5912730	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:5912520-5912670	GM12874	blood:	n/a	n/a
47	CTCF	chr11:5912469-5912763	K562	blood:	n/a	n/a
48	CTCF	chr11:5912480-5912630	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr11:5912320-5912470	GM12865	blood:	n/a	n/a
50	CTCF	chr11:5912580-5912730	GM12864	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905892-5905942	NHDF-neo	bronchial:	n/a
2	chr11:5905892-5905942	HAEpiC	amniotic membrane:	n/a
3	chr11:5905350-5905400	HCM	heart:	n/a
4	chr11:5905892-5905942	HMEC	breast:	n/a
5	chr11:5905892-5905942	GM12891	blood:	n/a
6	chr11:5905892-5905942	SK-N-SH_RA	brain:	n/a
7	chr11:5905892-5905942	A549	lung:	n/a
8	chr11:5905350-5905400	HCT-116	colon:	n/a
9	chr11:5905892-5905942	Hela-S3	cervix:	n/a
10	chr11:5905350-5905400	NHDF-neo	bronchial:	n/a
11	chr11:5905892-5905942	GM12878	blood:	n/a
12	chr11:5905350-5905400	BE2_C	brain:	n/a
13	chr11:5905892-5905942	RPTEC	kidney:	n/a
14	chr11:5905892-5905942	SK-N-SH	brain:	n/a
15	chr11:5905892-5905942	HRPEpiC	eye:	n/a
16	chr11:5905350-5905400	HRCEpiC	kidney:	n/a
17	chr11:5905892-5905942	HCT-116	colon:	n/a
18	chr11:5905350-5905400	HRPEpiC	eye:	n/a
19	chr11:5905350-5905400	HL-60	blood:	n/a
20	chr11:5905892-5905942	AG09319	gingival:	n/a
21	chr11:5905892-5905942	GM12892	blood:	n/a
22	chr11:5905892-5905942	PrEC	prostate:	n/a
23	chr11:5905892-5905942	NH-A	brain:	n/a
24	chr11:5905892-5905942	HRE	kidney:	n/a
25	chr11:5905350-5905400	PrEC	prostate:	n/a
26	chr11:5905350-5905400	ovcar-3	ovarian:	n/a
27	chr11:5905892-5905942	PANC-1	pancreas:	n/a
28	chr11:5905892-5905942	MCF-7	breast:	n/a
29	chr11:5905350-5905400	AoSMC	blood vessel:	n/a
30	chr11:5905350-5905400	ECC-1	luminal epithelium:	n/a
31	chr11:5905892-5905942	AG10803	skin:	n/a
32	chr11:5905350-5905400	AG09309	skin:	n/a
33	chr11:5905350-5905400	SKMC	muscle:	n/a
34	chr11:5905350-5905400	Jurkat	blood:	n/a
35	chr11:5905350-5905400	Hela-S3	cervix:	n/a
36	chr11:5905892-5905942	Hepatocyte	liver:	n/a
37	chr11:5905350-5905400	NT2-D1	testis:	n/a
38	chr11:5905350-5905400	AG04449	skin:	fetal
39	chr11:5905892-5905942	AG04449	skin:	fetal
40	chr11:5905892-5905942	HUVEC	blood vessel:	n/a
41	chr11:5905892-5905942	NT2-D1	testis:	n/a
42	chr11:5905350-5905400	T-47D	breast:	n/a
43	chr11:5905350-5905400	MCF10A-Er-Src	breast:	n/a
44	chr11:5905892-5905942	PFSK-1	brain:	n/a
45	chr11:5905350-5905400	GM12892	blood:	n/a
46	chr11:5905350-5905400	AG10803	skin:	n/a
47	chr11:5905892-5905942	IMR90	lung:	fetal
48	chr11:5905892-5905942	K562	blood:	n/a
49	chr11:5905892-5905942	SAEC	small airway:	n/a
50	chr11:5905350-5905400	HEEpiC	esophagus:	n/a

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 536 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10219367	chr11:5885711-5885712	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532472868	chr11:5885728-5885729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112474574	chr11:5885773-5885774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142565882	chr11:5885776-5885777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150218236	chr11:5885789-5885790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10219152	chr11:5885818-5885819	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138846814	chr11:5885831-5885832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11039351	chr11:5885846-5885847	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558418025	chr11:5885879-5885880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576987462	chr11:5885942-5885943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534383563	chr11:5885981-5885982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149339394	chr11:5885986-5885987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183056016	chr11:5885989-5885990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189063884	chr11:5886010-5886011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1597971	chr11:5886028-5886029	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73396269	chr11:5886047-5886048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544118163	chr11:5886061-5886062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78079474	chr11:5886075-5886076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575625448	chr11:5886077-5886078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6578697	chr11:5886089-5886090	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559885238	chr11:5886096-5886097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111458562	chr11:5886165-5886166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144691207	chr11:5886172-5886173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558136271	chr11:5886201-5886202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548564665	chr11:5886212-5886213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570066035	chr11:5886239-5886240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10838750	chr11:5886246-5886247	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs192821005	chr11:5886275-5886276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138095514	chr11:5886277-5886278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534794520	chr11:5886278-5886279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142649209	chr11:5886288-5886289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567805491	chr11:5886294-5886295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535179926	chr11:5886296-5886297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146038966	chr11:5886297-5886298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575212175	chr11:5886306-5886307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139918784	chr11:5886324-5886325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1597970	chr11:5886328-5886329	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1597969	chr11:5886363-5886364	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142189164	chr11:5886397-5886398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113709727	chr11:5886426-5886427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543200659	chr11:5886463-5886464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530167924	chr11:5886482-5886483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185338692	chr11:5886483-5886484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77093580	chr11:5886489-5886490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530916390	chr11:5886490-5886491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552316226	chr11:5886492-5886493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570721829	chr11:5886543-5886544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189452725	chr11:5886547-5886548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117309710	chr11:5887322-5887323	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368056025	chr11:5887353-5887354	Inactive region	Chromatin interactive region	2 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:7 , 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

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