Variant report

Variant	esv1827491
Chromosome Location	chr11:5755505-5775501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5764267-5764515	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:5758450-5758768	HepG2	liver:	n/a	chr11:5758602-5758613
3	CEBPB	chr11:5758427-5758789	IMR90	lung:	n/a	chr11:5758602-5758613
4	CEBPB	chr11:5775147-5775155	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:5758360-5758903	A549	lung:	n/a	chr11:5758602-5758613
6	CEBPB	chr11:5758427-5758790	A549	lung:	n/a	chr11:5758602-5758613
7	CEBPB	chr11:5758474-5758695	K562	blood:	n/a	chr11:5758602-5758613
8	CEBPB	chr11:5758403-5758769	A549	lung:	n/a	chr11:5758602-5758613
9	CTCF	chr11:5762540-5762690	Caco-2	colon:	n/a	n/a
10	E2F4	chr11:5771736-5772054	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr11:5770156-5770325	GM12878	blood:	n/a	chr11:5770256-5770269
12	EBF1	chr11:5770104-5770416	GM12878	blood:	n/a	chr11:5770256-5770269
13	FOS	chr11:5757759-5757937	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:5758410-5758734	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:5758414-5758737	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:5758485-5758597	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr11:5758384-5758702	A549	lung:	n/a	n/a
18	FOSL2	chr11:5758948-5759300	A549	lung:	n/a	chr11:5759254-5759261 chr11:5759254-5759262 chr11:5759254-5759262 chr11:5759253-5759263
19	GTF2F1	chr11:5767177-5767182	H1-hESC	embryonic stem cell:	n/a	n/a
20	IRF3	chr11:5767144-5767198	GM12878	blood:	n/a	n/a
21	JUN	chr11:5771503-5771519	HepG2	liver:	n/a	n/a
22	JUND	chr11:5758454-5758573	HepG2	liver:	n/a	chr11:5758549-5758560
23	KAP1	chr11:5774149-5774501	K562	blood:	n/a	n/a
24	KAP1	chr11:5763024-5763281	K562	blood:	n/a	n/a
25	MAFF	chr11:5771103-5771425	HepG2	liver:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
26	MAFF	chr11:5770394-5770519	HepG2	liver:	n/a	n/a
27	MAFF	chr11:5771106-5771329	K562	blood:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
28	MAFK	chr11:5771101-5771399	IMR90	lung:	n/a	chr11:5771262-5771282
29	MAFK	chr11:5771254-5771311	K562	blood:	n/a	chr11:5771262-5771282
30	MAFK	chr11:5771087-5771428	HepG2	liver:	n/a	chr11:5771262-5771282
31	MAFK	chr11:5771094-5771423	HepG2	liver:	n/a	chr11:5771262-5771282
32	MAFK	chr11:5770417-5770572	HepG2	liver:	n/a	chr11:5770492-5770508 chr11:5770495-5770509 chr11:5770496-5770507
33	POLR2A	chr11:5758299-5758434	Gliobla	brain:	n/a	n/a
34	POLR2A	chr11:5767583-5767625	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5763909-5764016	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5757367-5757394	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5764453-5764653	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:5766325-5766491	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5758224-5758724	U87	brain:	n/a	n/a
40	POLR2A	chr11:5765315-5765507	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:5773275-5773378	ProgFib	skin:	n/a	n/a
42	POLR2A	chr11:5772463-5772472	MCF10A-Er-Src	breast:	n/a	n/a
43	RFX5	chr11:5769298-5769412	K562	blood:	n/a	n/a
44	STAT3	chr11:5762335-5762484	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:5761451-5761587	MCF10A-Er-Src	breast:	n/a	n/a
46	USF2	chr11:5763146-5763165	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5758164-5758214	NH-A	brain:	n/a
2	chr11:5758164-5758214	GM12891	blood:	n/a
3	chr11:5758164-5758214	SK-N-SH	brain:	n/a
4	chr11:5758164-5758214	AG10803	skin:	n/a
5	chr11:5758164-5758214	NT2-D1	testis:	n/a
6	chr11:5758164-5758214	Hepatocyte	liver:	n/a
7	chr11:5758164-5758214	Hela-S3	cervix:	n/a
8	chr11:5758164-5758214	IMR90	lung:	fetal
9	chr11:5758164-5758214	BJ	skin:	n/a
10	chr11:5758164-5758214	AoSMC	blood vessel:	n/a
11	chr11:5758164-5758214	HEK293	kidney:	embryo
12	chr11:5758164-5758214	HCT-116	colon:	n/a
13	chr11:5758164-5758214	Jurkat	blood:	n/a
14	chr11:5758164-5758214	HUVEC	blood vessel:	n/a
15	chr11:5758164-5758214	GM19239	blood:	n/a
16	chr11:5758164-5758214	AG04450	lung:	fetal
17	chr11:5758164-5758214	LNCaP	prostate:	n/a
18	chr11:5758164-5758214	HCF	heart:	n/a
19	chr11:5758164-5758214	GM12892	blood:	n/a
20	chr11:5758164-5758214	SK-N-SH_RA	brain:	n/a
21	chr11:5758164-5758214	ovcar-3	ovarian:	n/a
22	chr11:5758164-5758214	HEEpiC	esophagus:	n/a
23	chr11:5758164-5758214	HIPEpiC	eye:	n/a
24	chr11:5758164-5758214	CMK	blood:	n/a
25	chr11:5758164-5758214	T-47D	breast:	n/a
26	chr11:5758164-5758214	MCF-7	breast:	n/a
27	chr11:5758164-5758214	PFSK-1	brain:	n/a
28	chr11:5758164-5758214	H1-hESC	embryonic stem cell:	embryo
29	chr11:5758164-5758214	PANC-1	pancreas:	n/a
30	chr11:5758164-5758214	MCF10A-Er-Src	breast:	n/a
31	chr11:5758164-5758214	HMEC	breast:	n/a
32	chr11:5758164-5758214	BE2_C	brain:	n/a
33	chr11:5758164-5758214	HCPEpiC	choroid plexus:	n/a
34	chr11:5758164-5758214	NB4	blood:	n/a
35	chr11:5758164-5758214	HRCEpiC	kidney:	n/a
36	chr11:5758164-5758214	NHBE	bronchial:	n/a
37	chr11:5758164-5758214	GM12878	blood:	n/a
38	chr11:5758164-5758214	SK-N-MC	brain:	n/a
39	chr11:5758164-5758214	SKMC	muscle:	n/a
40	chr11:5758164-5758214	HepG2	liver:	n/a
41	chr11:5758164-5758214	AG04449	skin:	fetal
42	chr11:5758164-5758214	SAEC	small airway:	n/a
43	chr11:5758164-5758214	HNPCEpiC	eye:	n/a
44	chr11:5758164-5758214	AG09309	skin:	n/a
45	chr11:5758164-5758214	A549	lung:	n/a
46	chr11:5758164-5758214	RPTEC	kidney:	n/a
47	chr11:5758164-5758214	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:5758164-5758214	PrEC	prostate:	n/a
49	chr11:5758164-5758214	K562	blood:	n/a
50	chr11:5758164-5758214	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	11:5076469-5081549..11:5767550-5775401	K562	blood:
2	11:5616559-5618985..11:5754988-5756879	K562	blood:
3	chr11:5757074..5759023-chr11:5763300..5765136,2	K562	blood:

Variant related genes	Relation type
OR52N4	TF binding region
OR56B1	TF binding region
OR52N4	CpG island
OR56B1	CpG island
ENSG00000258588	chromatin interactions
ENSG00000176787	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000181023	chromatin interactions

Extended variants
information (count: 656 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139102837	chr11:5755506-5755507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142393985	chr11:5755527-5755528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371189260	chr11:5755548-5755549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531462204	chr11:5755567-5755568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146393220	chr11:5755598-5755599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1498552	chr11:5755605-5755606	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs11038888	chr11:5755682-5755683	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547494111	chr11:5755736-5755737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202067872	chr11:5755805-5755806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181243431	chr11:5755811-5755812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139425975	chr11:5755825-5755826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570305012	chr11:5755900-5755901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555948981	chr11:5755987-5755988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567956703	chr11:5756003-5756004	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371923394	chr11:5756009-5756010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547587563	chr11:5756011-5756012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370196134	chr11:5756029-5756030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113586333	chr11:5756040-5756041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186513036	chr11:5756057-5756058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1532516	chr11:5756062-5756063	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191022556	chr11:5756063-5756064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201727360	chr11:5756091-5756092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150031757	chr11:5756110-5756111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182106067	chr11:5756151-5756152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542418347	chr11:5756188-5756189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549784691	chr11:5756207-5756208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6578680	chr11:5756210-5756211	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185346060	chr11:5756274-5756275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34819926	chr11:5756377-5756378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190891659	chr11:5756418-5756419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7120306	chr11:5756501-5756502	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs530953893	chr11:5756531-5756532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs183466713	chr11:5756545-5756546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530163117	chr11:5756554-5756555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs75630130	chr11:5756582-5756583	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117735531	chr11:5756622-5756623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs117014923	chr11:5756631-5756632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1498551	chr11:5756636-5756637	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188572366	chr11:5756644-5756645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs61878264	chr11:5756650-5756651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148736935	chr11:5756681-5756682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115757369	chr11:5756708-5756709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553706082	chr11:5756730-5756731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6578681	chr11:5756743-5756744	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542468494	chr11:5756825-5756826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192966484	chr11:5756851-5756852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576136369	chr11:5756861-5756862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543735438	chr11:5756869-5756870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565025337	chr11:5756910-5756911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369853272	chr11:5756979-5756980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5756800-5760400	Weak transcription	Ovary	ovary
3	chr11:5757400-5759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:5757600-5760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:5757800-5758400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:5757800-5758400	Enhancers	NHEK	skin
7	chr11:5757800-5758600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:5757800-5758800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:5757800-5759600	Enhancers	NHDF-Ad	bronchial
10	chr11:5757800-5759600	Enhancers	Osteobl	bone
11	chr11:5757800-5759800	Enhancers	HSMMtube	muscle
12	chr11:5757800-5760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:5758000-5759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:5758400-5759600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:5758400-5759600	Enhancers	HSMM	muscle
16	chr11:5759000-5759400	Enhancers	NH-A	brain
17	chr11:5759400-5759800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
19	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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