Variant report

Variant	esv33769
Chromosome Location	chr11:55183726-55258691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

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	chr11:55205280-55205382	HepG2	liver:	n/a	chr11:55205357-55205370 chr11:55205358-55205369
3	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
4	CEBPB	chr11:55195039-55195318	HepG2	liver:	n/a	chr11:55195175-55195186
5	CEBPB	chr11:55186537-55186742	HepG2	liver:	n/a	chr11:55186568-55186579
6	CEBPB	chr11:55217456-55217716	HepG2	liver:	n/a	chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217583-55217594 chr11:55217582-55217593
7	CEBPB	chr11:55225032-55225273	A549	lung:	n/a	n/a
8	CEBPB	chr11:55195070-55195304	IMR90	lung:	n/a	chr11:55195175-55195186
9	CTCF	chr11:55227504-55227561	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:55227505-55227575	NHEK	skin:	n/a	n/a
11	CTCF	chr11:55233786-55233856	Lung_OC	lung:	n/a	n/a
12	CTCF	chr11:55197254-55197336	GM20000	blood:	n/a	n/a
13	CTCF	chr11:55227533-55227555	A549	lung:	n/a	n/a
14	CTCF	chr11:55197244-55197245	GM20000	blood:	n/a	n/a
15	CTCF	chr11:55227510-55227568	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:55191132-55191201	Lung_OC	lung:	n/a	n/a
17	CTCF	chr11:55227500-55227535	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:55227484-55227569	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:55186236-55186315	GM10248	blood:	n/a	n/a
20	CTCF	chr11:55227474-55227578	MCF-7	breast:	n/a	n/a
21	E2F4	chr11:55222441-55222621	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr11:55240989-55240993	K562	blood:	n/a	n/a
23	FOS	chr11:55248955-55249222	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:55186070-55186076	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:55248941-55249330	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:55242790-55242813	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:55248962-55249339	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA2	chr11:55227585-55228204	A549	lung:	n/a	n/a
29	FOXA2	chr11:55198488-55198916	A549	lung:	n/a	n/a
30	FOXA2	chr11:55227650-55228079	A549	lung:	n/a	n/a
31	IRF1	chr11:55247000-55247012	K562	blood:	n/a	n/a
32	JUN	chr11:55239094-55239294	K562	blood:	n/a	n/a
33	JUND	chr11:55248936-55249124	HepG2	liver:	n/a	chr11:55249032-55249043
34	JUND	chr11:55215728-55215945	HepG2	liver:	n/a	chr11:55215836-55215847
35	MAFF	chr11:55215763-55216021	HepG2	liver:	n/a	chr11:55215899-55215917
36	MAFK	chr11:55215738-55216034	HepG2	liver:	n/a	chr11:55215901-55215916
37	MAFK	chr11:55215768-55216022	HepG2	liver:	n/a	chr11:55215901-55215916
38	MAFK	chr11:55187863-55188022	HepG2	liver:	n/a	n/a
39	MAX	chr11:55226210-55226364	NB4	blood:	n/a	chr11:55226319-55226329
40	MAZ	chr11:55222588-55222604	GM12878	blood:	n/a	n/a
41	MYC	chr11:55227419-55227590	MCF-7	breast:	n/a	n/a
42	NR2F2	chr11:55198562-55198744	K562	blood:	n/a	n/a
43	PAX5	chr11:55238531-55238699	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:55227390-55227613	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:55227463-55227590	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:55238373-55238468	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:55237462-55237512	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:55236358-55236594	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:55238365-55238424	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:55256512-55256541	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55227646-55227696	AoSMC	blood vessel:	n/a
2	chr11:55227646-55227696	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:55227646-55227696	GM12878	blood:	n/a
4	chr11:55227718-55227768	ovcar-3	ovarian:	n/a
5	chr11:55227646-55227696	AG09309	skin:	n/a
6	chr11:55227646-55227696	SK-N-MC	brain:	n/a
7	chr11:55227718-55227768	Caco-2	colon:	n/a
8	chr11:55227646-55227696	NHDF-neo	bronchial:	n/a
9	chr11:55227646-55227696	MCF-7	breast:	n/a
10	chr11:55227718-55227768	SAEC	small airway:	n/a
11	chr11:55227646-55227696	AG04450	lung:	fetal
12	chr11:55227646-55227696	SKMC	muscle:	n/a
13	chr11:55227646-55227696	GM12891	blood:	n/a
14	chr11:55227718-55227768	HRCEpiC	kidney:	n/a
15	chr11:55227718-55227768	SK-N-SH	brain:	n/a
16	chr11:55227718-55227768	CMK	blood:	n/a
17	chr11:55227718-55227768	RPTEC	kidney:	n/a
18	chr11:55227646-55227696	BJ	skin:	n/a
19	chr11:55227718-55227768	HIPEpiC	eye:	n/a
20	chr11:55227646-55227696	HCPEpiC	choroid plexus:	n/a
21	chr11:55227718-55227768	NH-A	brain:	n/a
22	chr11:55227718-55227768	HAEpiC	amniotic membrane:	n/a
23	chr11:55227646-55227696	HEK293	kidney:	embryo
24	chr11:55227718-55227768	PrEC	prostate:	n/a
25	chr11:55227646-55227696	GM19239	blood:	n/a
26	chr11:55227718-55227768	BJ	skin:	n/a
27	chr11:55227718-55227768	HEK293	kidney:	embryo
28	chr11:55227646-55227696	Hela-S3	cervix:	n/a
29	chr11:55227646-55227696	PFSK-1	brain:	n/a
30	chr11:55227646-55227696	ProgFib	skin:	n/a
31	chr11:55227646-55227696	HRE	kidney:	n/a
32	chr11:55227718-55227768	HNPCEpiC	eye:	n/a
33	chr11:55227718-55227768	Hela-S3	cervix:	n/a
34	chr11:55227646-55227696	K562	blood:	n/a
35	chr11:55227646-55227696	SK-N-SH	brain:	n/a
36	chr11:55227718-55227768	MCF-7	breast:	n/a
37	chr11:55227646-55227696	HCT-116	colon:	n/a
38	chr11:55227646-55227696	SAEC	small airway:	n/a
39	chr11:55227646-55227696	HCM	heart:	n/a
40	chr11:55227718-55227768	HUVEC	blood vessel:	n/a
41	chr11:55227646-55227696	GM12892	blood:	n/a
42	chr11:55227646-55227696	GM06990	blood:	n/a
43	chr11:55227718-55227768	SK-N-MC	brain:	n/a
44	chr11:55227718-55227768	HCPEpiC	choroid plexus:	n/a
45	chr11:55227646-55227696	Caco-2	colon:	n/a
46	chr11:55227718-55227768	GM12878	blood:	n/a
47	chr11:55227718-55227768	AG04449	skin:	fetal
48	chr11:55227646-55227696	NH-A	brain:	n/a
49	chr11:55227718-55227768	ECC-1	luminal epithelium:	n/a
50	chr11:55227718-55227768	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
OR4A13P	TF binding region
ENSG00000255493	TF binding region
OR4A21P	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4A10P	TF binding region
OR4A17P	TF binding region
OR4A13P	CpG island
ENSG00000255493	CpG island
OR4A21P	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4A10P	CpG island
OR4A17P	CpG island

Extended variants
information (count: 829 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185900406	chr11:55190619-55190620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573248638	chr11:55190644-55190645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543472656	chr11:55190649-55190650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540269753	chr11:55190655-55190656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562109254	chr11:55190667-55190668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12290726	chr11:55190669-55190670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs61918221	chr11:55190708-55190709	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192066393	chr11:55190710-55190711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148270667	chr11:55190716-55190717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566144380	chr11:55190750-55190751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528580084	chr11:55190759-55190760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549449663	chr11:55190764-55190765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551523003	chr11:55190796-55190797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552031795	chr11:55190808-55190809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371364270	chr11:55190827-55190828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571867635	chr11:55190838-55190839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570461348	chr11:55190845-55190846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182947143	chr11:55190855-55190856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201087861	chr11:55190871-55190872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141386664	chr11:55190884-55190885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536345536	chr11:55190886-55190887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201792133	chr11:55190900-55190901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112103445	chr11:55190924-55190925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575575574	chr11:55190927-55190928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551938617	chr11:55190935-55190936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34696917	chr11:55190939-55190940	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557888804	chr11:55190947-55190948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111446502	chr11:55190983-55190984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539760833	chr11:55191012-55191013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188392547	chr11:55191028-55191029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76135585	chr11:55191032-55191033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550322480	chr11:55191055-55191056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567213241	chr11:55191056-55191057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535946866	chr11:55191060-55191061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535080311	chr11:55191078-55191079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544170326	chr11:55191079-55191080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139909378	chr11:55191080-55191081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192242341	chr11:55191105-55191106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545246452	chr11:55191111-55191112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61918222	chr11:55191116-55191117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182115309	chr11:55191119-55191120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568036022	chr11:55191120-55191121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186718855	chr11:55191121-55191122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552227320	chr11:55195039-55195040	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs570423024	chr11:55195047-55195048	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs143961666	chr11:55195048-55195049	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs546574622	chr11:55195074-55195075	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs144920128	chr11:55195089-55195090	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs576742653	chr11:55195101-55195102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs1425196	chr11:55195166-55195167	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55190600-55191200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55215800-55222400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:55225400-55225800	Active TSS	HSMMtube	muscle
4	chr11:55225800-55227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:55227400-55227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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