Variant report

Variant	esv2752700
Chromosome Location	chr11:55830265-55896015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:550)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:55856682-55856750	K562	blood:	n/a	n/a
2	CEBPB	chr11:55834333-55834597	HepG2	liver:	n/a	n/a
3	CHD1	chr11:55861285-55861372	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:55856583-55857666	A549	lung:	n/a	chr11:55857306-55857313
5	CTCF	chr11:55857301-55857439	GM13977	blood:	n/a	chr11:55857306-55857313
6	CTCF	chr11:55830312-55830375	GM13976	blood:	n/a	n/a
7	CTCF	chr11:55857222-55857410	A549	lung:	n/a	chr11:55857306-55857313
8	CTCF	chr11:55857300-55857450	GM12801	blood:	n/a	chr11:55857306-55857313
9	CTCF	chr11:55857304-55857452	LNCaP	prostate:	n/a	chr11:55857306-55857313
10	CTCF	chr11:55890080-55890230	GM12866	blood:	n/a	n/a
11	CTCF	chr11:55857282-55857482	IMR90	lung:	n/a	chr11:55857306-55857313
12	CTCF	chr11:55857315-55857414	K562	blood:	n/a	n/a
13	CTCF	chr11:55857262-55857476	Medullo	brain:	n/a	chr11:55857306-55857313
14	CTCF	chr11:55893760-55893910	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:55857215-55857476	K562	blood:	n/a	chr11:55857306-55857313
16	CTCF	chr11:55857297-55857435	LNCaP	prostate:	n/a	chr11:55857306-55857313
17	CTCF	chr11:55857339-55857418	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr11:55857278-55857489	H1-hESC	embryonic stem cell:	n/a	chr11:55857306-55857313
19	CTCF	chr11:55835352-55835424	ProgFib	skin:	n/a	n/a
20	CTCF	chr11:55857275-55857526	A549	lung:	n/a	chr11:55857306-55857313
21	CTCF	chr11:55871069-55871124	GM13977	blood:	n/a	n/a
22	CTCF	chr11:55857380-55857530	BE2_C	brain:	n/a	n/a
23	CTCF	chr11:55857328-55857425	GM20000	blood:	n/a	n/a
24	CTCF	chr11:55857280-55857430	Caco-2	colon:	n/a	chr11:55857306-55857313
25	CTCF	chr11:55857340-55857490	A549	lung:	n/a	n/a
26	CUX1	chr11:55878375-55878386	GM12878	blood:	n/a	n/a
27	E2F4	chr11:55875913-55876332	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr11:55863942-55864132	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr11:55857176-55857491	T-47D	breast:	n/a	n/a
30	GATA3	chr11:55879288-55879577	SH-SY5Y	brain:	n/a	chr11:55879382-55879392 chr11:55879377-55879398 chr11:55879384-55879391 chr11:55879384-55879391 chr11:55879382-55879391 chr11:55879379-55879395 chr11:55879384-55879391
31	GTF2F1	chr11:55852135-55852147	H1-hESC	embryonic stem cell:	n/a	n/a
32	IRF1	chr11:55878415-55878470	K562	blood:	n/a	n/a
33	JUN	chr11:55856060-55856243	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr11:55857434-55857453	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr11:55862735-55862930	HepG2	liver:	n/a	n/a
36	MAFK	chr11:55831263-55831443	HepG2	liver:	n/a	n/a
37	MAFK	chr11:55876117-55876316	HepG2	liver:	n/a	n/a
38	MAFK	chr11:55876107-55876310	HepG2	liver:	n/a	n/a
39	MAFK	chr11:55841139-55841281	IMR90	lung:	n/a	n/a
40	MAZ	chr11:55852542-55852704	HepG2	liver:	n/a	n/a
41	MXI1	chr11:55852242-55852268	K562	blood:	n/a	n/a
42	MXI1	chr11:55854591-55854592	GM12878	blood:	n/a	n/a
43	MYC	chr11:55849838-55849948	MCF10A-Er-Src	breast:	n/a	n/a
44	NFYA	chr11:55878903-55879095	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:55858089-55858122	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:55895206-55895282	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:55831806-55831917	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:55835647-55835847	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:55840930-55841099	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:55851092-55851292	MCF10A-Er-Src	breast:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55889808-55889858	SK-N-MC	brain:	n/a
2	chr11:55889808-55889858	SK-N-MC	brain:	n/a
3	chr11:55872478-55872528	ovcar-3	ovarian:	n/a
4	chr11:55872478-55872528	NT2-D1	testis:	n/a
5	chr11:55861503-55861553	HRCEpiC	kidney:	n/a
6	chr11:55889797-55889847	HepG2	liver:	n/a
7	chr11:55889658-55889708	HAEpiC	amniotic membrane:	n/a
8	chr11:55861503-55861553	GM19239	blood:	n/a
9	chr11:55889808-55889858	NB4	blood:	n/a
10	chr11:55890274-55890324	HIPEpiC	eye:	n/a
11	chr11:55889658-55889708	SK-N-MC	brain:	n/a
12	chr11:55872467-55872517	K562	blood:	n/a
13	chr11:55890274-55890324	CMK	blood:	n/a
14	chr11:55889658-55889708	BJ	skin:	n/a
15	chr11:55889797-55889847	Hela-S3	cervix:	n/a
16	chr11:55872995-55873045	HEK293	kidney:	embryo
17	chr11:55889658-55889708	GM12878	blood:	n/a
18	chr11:55889797-55889847	HCF	heart:	n/a
19	chr11:55861503-55861553	AG04449	skin:	fetal
20	chr11:55872882-55872932	HEEpiC	esophagus:	n/a
21	chr11:55872478-55872528	HCT-116	colon:	n/a
22	chr11:55872995-55873045	NT2-D1	testis:	n/a
23	chr11:55889658-55889708	K562	blood:	n/a
24	chr11:55872478-55872528	HIPEpiC	eye:	n/a
25	chr11:55889797-55889847	BE2_C	brain:	n/a
26	chr11:55889797-55889847	HNPCEpiC	eye:	n/a
27	chr11:55889808-55889858	SKMC	muscle:	n/a
28	chr11:55889658-55889708	AG09319	gingival:	n/a
29	chr11:55872995-55873045	HRE	kidney:	n/a
30	chr11:55890274-55890324	SAEC	small airway:	n/a
31	chr11:55872467-55872517	Hela-S3	cervix:	n/a
32	chr11:55890274-55890324	NHDF-neo	bronchial:	n/a
33	chr11:55889658-55889708	HCM	heart:	n/a
34	chr11:55872995-55873045	AG04449	skin:	fetal
35	chr11:55889658-55889708	LNCaP	prostate:	n/a
36	chr11:55861503-55861553	Hela-S3	cervix:	n/a
37	chr11:55890274-55890324	Caco-2	colon:	n/a
38	chr11:55872467-55872517	HUVEC	blood vessel:	n/a
39	chr11:55889658-55889708	HRCEpiC	kidney:	n/a
40	chr11:55889658-55889708	ovcar-3	ovarian:	n/a
41	chr11:55890274-55890324	HRE	kidney:	n/a
42	chr11:55889808-55889858	U87	brain:	n/a
43	chr11:55890274-55890324	SK-N-SH	brain:	n/a
44	chr11:55872467-55872517	RPTEC	kidney:	n/a
45	chr11:55872467-55872517	HCPEpiC	choroid plexus:	n/a
46	chr11:55861503-55861553	AG10803	skin:	n/a
47	chr11:55889808-55889858	GM06990	blood:	n/a
48	chr11:55889797-55889847	GM19239	blood:	n/a
49	chr11:55872882-55872932	HRPEpiC	eye:	n/a
50	chr11:55872478-55872528	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55861584..55863423-chr11:55907412..55909639,2	K562	blood:

No data

Variant related genes	Relation type
OR5BN2P	TF binding region
OR8I4P	TF binding region
OR8H2	TF binding region
OR8I2	TF binding region
OR8H3	TF binding region
OR5J1P	TF binding region
OR5BE1P	TF binding region
OR5BN2P	CpG island
OR8I4P	CpG island
OR8H2	CpG island
OR8I2	CpG island
OR8H3	CpG island
OR5J1P	CpG island
OR5BE1P	CpG island

Extended variants
information (count: 361 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10895984	chr11:55830265-55830266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537027366	chr11:55830387-55830388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558973336	chr11:55830407-55830408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543904221	chr11:55830413-55830414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558401946	chr11:55830434-55830435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563620850	chr11:55830477-55830478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141389819	chr11:55830523-55830524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541098578	chr11:55830529-55830530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150823531	chr11:55830572-55830573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190537350	chr11:55830584-55830585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61891197	chr11:55830608-55830609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61891198	chr11:55830647-55830648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530846271	chr11:55830668-55830669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61891199	chr11:55830680-55830681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35131507	chr11:55830690-55830691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564298236	chr11:55830717-55830718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181094819	chr11:55830769-55830770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148111623	chr11:55830777-55830778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546645913	chr11:55830815-55830816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139327377	chr11:55830870-55830871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149583991	chr11:55830874-55830875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551001492	chr11:55830892-55830893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551760815	chr11:55830899-55830900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185586194	chr11:55830908-55830909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67582840	chr11:55830929-55830930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536913048	chr11:55830955-55830956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558545027	chr11:55830970-55830971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570414590	chr11:55830997-55830998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146131167	chr11:55831010-55831011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553101573	chr11:55831035-55831036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189657749	chr11:55831045-55831046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566946138	chr11:55831061-55831062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542394400	chr11:55831085-55831086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183016877	chr11:55831095-55831096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374050351	chr11:55831105-55831106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188768772	chr11:55831165-55831166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192108855	chr11:55831166-55831167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4939019	chr11:55831189-55831190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553189870	chr11:55831201-55831202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573045449	chr11:55831269-55831270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528456163	chr11:55831280-55831281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370839619	chr11:55831305-55831306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540372347	chr11:55831321-55831322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561823342	chr11:55831328-55831329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558870952	chr11:55831353-55831354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75086571	chr11:55831385-55831386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530479323	chr11:55831412-55831413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140113742	chr11:55831465-55831466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183931259	chr11:55831514-55831515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12798312	chr11:55831519-55831520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55822800-55834000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:55834000-55834200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr11:55850200-55851400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:55860800-55861200	Active TSS	Fetal Heart	heart

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