Variant report

Variant	nsv983228
Chromosome Location	chr11:5751256-5758639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5758450-5758768	HepG2	liver:	n/a	chr11:5758602-5758613
2	CEBPB	chr11:5758403-5758769	A549	lung:	n/a	chr11:5758602-5758613
3	CEBPB	chr11:5758474-5758695	K562	blood:	n/a	chr11:5758602-5758613
4	CEBPB	chr11:5758427-5758790	A549	lung:	n/a	chr11:5758602-5758613
5	CEBPB	chr11:5753243-5753353	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:5758360-5758903	A549	lung:	n/a	chr11:5758602-5758613
7	CEBPB	chr11:5758427-5758789	IMR90	lung:	n/a	chr11:5758602-5758613
8	FOS	chr11:5758414-5758737	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:5757759-5757937	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:5758410-5758734	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:5758485-5758597	MCF10A-Er-Src	breast:	n/a	n/a
12	FOSL2	chr11:5758384-5758702	A549	lung:	n/a	n/a
13	JUN	chr11:5753479-5753489	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr11:5758454-5758573	HepG2	liver:	n/a	chr11:5758549-5758560
15	POLR2A	chr11:5753900-5753939	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:5758299-5758434	Gliobla	brain:	n/a	n/a
17	POLR2A	chr11:5757367-5757394	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:5754959-5755173	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:5758224-5758724	U87	brain:	n/a	n/a
20	STAT3	chr11:5754077-5754119	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5758164-5758214	A549	lung:	n/a
2	chr11:5758164-5758214	HCT-116	colon:	n/a
3	chr11:5758164-5758214	AG10803	skin:	n/a
4	chr11:5758164-5758214	PANC-1	pancreas:	n/a
5	chr11:5758164-5758214	SK-N-SH_RA	brain:	n/a
6	chr11:5758164-5758214	MCF-7	breast:	n/a
7	chr11:5758164-5758214	HMEC	breast:	n/a
8	chr11:5758164-5758214	AG04449	skin:	fetal
9	chr11:5758164-5758214	AG04450	lung:	fetal
10	chr11:5758164-5758214	NHDF-neo	bronchial:	n/a
11	chr11:5758164-5758214	IMR90	lung:	fetal
12	chr11:5758164-5758214	NHBE	bronchial:	n/a
13	chr11:5758164-5758214	K562	blood:	n/a
14	chr11:5758164-5758214	HCM	heart:	n/a
15	chr11:5758164-5758214	HRE	kidney:	n/a
16	chr11:5758164-5758214	HEK293	kidney:	embryo
17	chr11:5758164-5758214	PrEC	prostate:	n/a
18	chr11:5758164-5758214	BE2_C	brain:	n/a
19	chr11:5758164-5758214	NT2-D1	testis:	n/a
20	chr11:5758164-5758214	U87	brain:	n/a
21	chr11:5758164-5758214	ECC-1	luminal epithelium:	n/a
22	chr11:5758164-5758214	RPTEC	kidney:	n/a
23	chr11:5758164-5758214	NH-A	brain:	n/a
24	chr11:5758164-5758214	Hepatocyte	liver:	n/a
25	chr11:5758164-5758214	SAEC	small airway:	n/a
26	chr11:5758164-5758214	HEEpiC	esophagus:	n/a
27	chr11:5758164-5758214	ProgFib	skin:	n/a
28	chr11:5758164-5758214	LNCaP	prostate:	n/a
29	chr11:5758164-5758214	Caco-2	colon:	n/a
30	chr11:5758164-5758214	T-47D	breast:	n/a
31	chr11:5758164-5758214	SK-N-SH	brain:	n/a
32	chr11:5758164-5758214	GM19239	blood:	n/a
33	chr11:5758164-5758214	GM06990	blood:	n/a
34	chr11:5758164-5758214	HCPEpiC	choroid plexus:	n/a
35	chr11:5758164-5758214	H1-hESC	embryonic stem cell:	embryo
36	chr11:5758164-5758214	SK-N-MC	brain:	n/a
37	chr11:5758164-5758214	Jurkat	blood:	n/a
38	chr11:5758164-5758214	MCF10A-Er-Src	breast:	n/a
39	chr11:5758164-5758214	HAEpiC	amniotic membrane:	n/a
40	chr11:5758164-5758214	HRCEpiC	kidney:	n/a
41	chr11:5758164-5758214	GM12892	blood:	n/a
42	chr11:5758164-5758214	AG09319	gingival:	n/a
43	chr11:5758164-5758214	HL-60	blood:	n/a
44	chr11:5758164-5758214	HRPEpiC	eye:	n/a
45	chr11:5758164-5758214	Hela-S3	cervix:	n/a
46	chr11:5758164-5758214	HCF	heart:	n/a
47	chr11:5758164-5758214	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:5758164-5758214	SKMC	muscle:	n/a
49	chr11:5758164-5758214	HUVEC	blood vessel:	n/a
50	chr11:5758164-5758214	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5628897..5631737-chr11:5750557..5752492,2	K562	blood:
2	11:5616559-5618985..11:5754988-5756879	K562	blood:

No data

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

Extended variants
information (count: 299 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75044410	chr11:5751269-5751270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571841630	chr11:5751373-5751374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79314186	chr11:5751383-5751384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75469881	chr11:5751392-5751393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66817653	chr11:5751420-5751421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542081460	chr11:5751438-5751439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11312720	chr11:5751439-5751440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7925088	chr11:5751507-5751508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11038878	chr11:5751515-5751516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191300494	chr11:5751555-5751556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57610338	chr11:5751566-5751567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183104915	chr11:5751569-5751570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558766371	chr11:5751570-5751571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113179936	chr11:5751571-5751572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10838600	chr11:5751580-5751581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573318259	chr11:5751587-5751588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141662105	chr11:5751610-5751611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574792613	chr11:5751642-5751643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11038879	chr11:5751643-5751644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575666927	chr11:5751657-5751658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374568867	chr11:5751663-5751664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60524934	chr11:5751712-5751713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564017962	chr11:5751716-5751717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34714737	chr11:5751736-5751737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532788858	chr11:5751744-5751745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547589943	chr11:5751925-5751926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139529870	chr11:5751956-5751957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190918238	chr11:5752011-5752012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34389269	chr11:5752020-5752021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544496339	chr11:5752069-5752070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149661687	chr11:5752075-5752076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537041865	chr11:5752093-5752094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183341946	chr11:5752099-5752100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144449135	chr11:5752105-5752106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535077017	chr11:5752108-5752109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555197192	chr11:5752118-5752119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188080982	chr11:5752122-5752123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs118109264	chr11:5752188-5752189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535778088	chr11:5752199-5752200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34885431	chr11:5752237-5752238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72878683	chr11:5752268-5752269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540571075	chr11:5752285-5752286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140167315	chr11:5752287-5752288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2030097	chr11:5752306-5752307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74051089	chr11:5752315-5752316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560404252	chr11:5752322-5752323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572861880	chr11:5752343-5752344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79810916	chr11:5752358-5752359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368427288	chr11:5752394-5752395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77201112	chr11:5752444-5752445	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5754400-5754600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:5756800-5760400	Weak transcription	Ovary	ovary
4	chr11:5757400-5759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:5757600-5760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:5757800-5758400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:5757800-5758400	Enhancers	NHEK	skin
8	chr11:5757800-5758600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:5757800-5758800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:5757800-5759600	Enhancers	NHDF-Ad	bronchial
11	chr11:5757800-5759600	Enhancers	Osteobl	bone
12	chr11:5757800-5759800	Enhancers	HSMMtube	muscle
13	chr11:5757800-5760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:5758000-5759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:5758400-5759600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:5758400-5759600	Enhancers	HSMM	muscle

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