Variant report

Variant	esv3367714
Chromosome Location	chr11:55207212-55241141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55237138-55237399	A549	lung:	n/a	chr11:55237275-55237286
2	CEBPB	chr11:55225032-55225273	A549	lung:	n/a	n/a
3	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
4	CEBPB	chr11:55217456-55217716	HepG2	liver:	n/a	chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217583-55217594 chr11:55217582-55217593
5	CTCF	chr11:55227505-55227575	NHEK	skin:	n/a	n/a
6	CTCF	chr11:55227500-55227535	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:55227510-55227568	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:55233786-55233856	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:55227484-55227569	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:55227474-55227578	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:55227504-55227561	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:55227533-55227555	A549	lung:	n/a	n/a
13	E2F4	chr11:55222441-55222621	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr11:55240989-55240993	K562	blood:	n/a	n/a
15	FOXA2	chr11:55227650-55228079	A549	lung:	n/a	n/a
16	FOXA2	chr11:55227585-55228204	A549	lung:	n/a	n/a
17	JUN	chr11:55239094-55239294	K562	blood:	n/a	n/a
18	JUND	chr11:55215728-55215945	HepG2	liver:	n/a	chr11:55215836-55215847
19	MAFF	chr11:55215763-55216021	HepG2	liver:	n/a	chr11:55215899-55215917
20	MAFK	chr11:55215738-55216034	HepG2	liver:	n/a	chr11:55215901-55215916
21	MAFK	chr11:55215768-55216022	HepG2	liver:	n/a	chr11:55215901-55215916
22	MAX	chr11:55226210-55226364	NB4	blood:	n/a	chr11:55226319-55226329
23	MAZ	chr11:55222588-55222604	GM12878	blood:	n/a	n/a
24	MYC	chr11:55227419-55227590	MCF-7	breast:	n/a	n/a
25	PAX5	chr11:55238531-55238699	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:55227406-55227572	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:55237462-55237512	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:55222327-55222495	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:55238365-55238424	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:55238373-55238468	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:55235959-55236097	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:55227444-55227577	A549	lung:	n/a	n/a
33	POLR2A	chr11:55227390-55227613	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:55240617-55240817	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:55227487-55227579	MCF-7	breast:	n/a	n/a
36	POLR2A	chr11:55227388-55227579	K562	blood:	n/a	n/a
37	POLR2A	chr11:55227389-55227697	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:55227463-55227590	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:55219103-55219303	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:55227439-55227573	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:55236358-55236594	MCF10A-Er-Src	breast:	n/a	n/a
42	SPI1	chr11:55238516-55238700	GM12878	blood:	n/a	n/a
43	STAT3	chr11:55224836-55225200	MCF10A-Er-Src	breast:	n/a	chr11:55225002-55225013
44	TCF3	chr11:55227390-55227577	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55227718-55227768	GM12878	blood:	n/a
2	chr11:55227718-55227768	HIPEpiC	eye:	n/a
3	chr11:55227646-55227696	ProgFib	skin:	n/a
4	chr11:55227646-55227696	HUVEC	blood vessel:	n/a
5	chr11:55227646-55227696	AG10803	skin:	n/a
6	chr11:55227718-55227768	HCM	heart:	n/a
7	chr11:55227718-55227768	MCF-7	breast:	n/a
8	chr11:55227718-55227768	HRCEpiC	kidney:	n/a
9	chr11:55227646-55227696	PrEC	prostate:	n/a
10	chr11:55227646-55227696	GM06990	blood:	n/a
11	chr11:55227646-55227696	SKMC	muscle:	n/a
12	chr11:55227718-55227768	SK-N-SH_RA	brain:	n/a
13	chr11:55227718-55227768	AoSMC	blood vessel:	n/a
14	chr11:55227646-55227696	U87	brain:	n/a
15	chr11:55227646-55227696	Jurkat	blood:	n/a
16	chr11:55227646-55227696	HCM	heart:	n/a
17	chr11:55227718-55227768	NH-A	brain:	n/a
18	chr11:55227646-55227696	MCF-7	breast:	n/a
19	chr11:55227646-55227696	NB4	blood:	n/a
20	chr11:55227718-55227768	HepG2	liver:	n/a
21	chr11:55227718-55227768	K562	blood:	n/a
22	chr11:55227718-55227768	GM12891	blood:	n/a
23	chr11:55227646-55227696	HMEC	breast:	n/a
24	chr11:55227646-55227696	A549	lung:	n/a
25	chr11:55227718-55227768	HEK293	kidney:	embryo
26	chr11:55227646-55227696	SK-N-SH	brain:	n/a
27	chr11:55227718-55227768	AG04450	lung:	fetal
28	chr11:55227718-55227768	MCF10A-Er-Src	breast:	n/a
29	chr11:55227718-55227768	Hela-S3	cervix:	n/a
30	chr11:55227646-55227696	RPTEC	kidney:	n/a
31	chr11:55227718-55227768	GM19239	blood:	n/a
32	chr11:55227646-55227696	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:55227646-55227696	HNPCEpiC	eye:	n/a
34	chr11:55227646-55227696	AoSMC	blood vessel:	n/a
35	chr11:55227646-55227696	AG09319	gingival:	n/a
36	chr11:55227646-55227696	SAEC	small airway:	n/a
37	chr11:55227718-55227768	AG09319	gingival:	n/a
38	chr11:55227646-55227696	Caco-2	colon:	n/a
39	chr11:55227646-55227696	HEEpiC	esophagus:	n/a
40	chr11:55227718-55227768	ProgFib	skin:	n/a
41	chr11:55227646-55227696	PFSK-1	brain:	n/a
42	chr11:55227646-55227696	K562	blood:	n/a
43	chr11:55227646-55227696	Hepatocyte	liver:	n/a
44	chr11:55227646-55227696	SK-N-SH_RA	brain:	n/a
45	chr11:55227718-55227768	RPTEC	kidney:	n/a
46	chr11:55227718-55227768	NHDF-neo	bronchial:	n/a
47	chr11:55227718-55227768	ovcar-3	ovarian:	n/a
48	chr11:55227646-55227696	HRCEpiC	kidney:	n/a
49	chr11:55227646-55227696	BE2_C	brain:	n/a
50	chr11:55227718-55227768	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
OR4A13P	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4A17P	TF binding region
OR4A13P	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4A17P	CpG island

Extended variants
information (count: 645 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560633899	chr11:55215815-55215816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192986960	chr11:55215820-55215821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546626718	chr11:55215827-55215828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs145774790	chr11:55215832-55215833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528869740	chr11:55215834-55215835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182587955	chr11:55215846-55215847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs61916397	chr11:55215857-55215858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573034722	chr11:55215858-55215859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367555332	chr11:55215871-55215872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539317322	chr11:55215873-55215874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375162241	chr11:55215886-55215887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541439525	chr11:55215925-55215926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116649034	chr11:55215943-55215944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566617486	chr11:55215944-55215945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529665998	chr11:55215946-55215947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142974369	chr11:55215974-55215975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146144605	chr11:55216002-55216003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573998652	chr11:55216014-55216015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566785657	chr11:55216022-55216023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs578145897	chr11:55216032-55216033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544595684	chr11:55216039-55216040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556930848	chr11:55216068-55216069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578253844	chr11:55216072-55216073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148798199	chr11:55216089-55216090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560522777	chr11:55216101-55216102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141624041	chr11:55216128-55216129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372371365	chr11:55216137-55216138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187055528	chr11:55216138-55216139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528882506	chr11:55216140-55216141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538540074	chr11:55216147-55216148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563760134	chr11:55216167-55216168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191825712	chr11:55216181-55216182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533063401	chr11:55216194-55216195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368383784	chr11:55216202-55216203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150522028	chr11:55216237-55216238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533990110	chr11:55216240-55216241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs61916398	chr11:55216248-55216249	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567733636	chr11:55216265-55216266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569112003	chr11:55216269-55216270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538307982	chr11:55216274-55216275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556617000	chr11:55216289-55216290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs578036246	chr11:55216290-55216291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539348819	chr11:55216317-55216318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554435821	chr11:55216318-55216319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145533150	chr11:55216321-55216322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542830723	chr11:55216344-55216345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139503693	chr11:55216360-55216361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537961475	chr11:55216362-55216363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543180928	chr11:55216363-55216364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117811512	chr11:55216415-55216416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55215800-55222400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55225400-55225800	Active TSS	HSMMtube	muscle
3	chr11:55225800-55227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:55227400-55227800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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