Variant report

Variant	esv2830216
Chromosome Location	chr11:55367889-55452923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:55425450-55425874	GM12878	blood:	n/a	n/a
2	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
3	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
4	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
10	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
11	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
13	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
14	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
15	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
16	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
17	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
19	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
20	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:55429279-55429413	GM19238	blood:	n/a	chr11:55429353-55429366 chr11:55429358-55429366 chr11:55429351-55429369
22	EBF1	chr11:55425437-55426072	GM12878	blood:	n/a	n/a
23	EBF1	chr11:55425514-55425729	GM12878	blood:	n/a	n/a
24	EBF1	chr11:55425375-55426123	GM12878	blood:	n/a	n/a
25	EP300	chr11:55427002-55427191	GM12878	blood:	n/a	chr11:55427074-55427083
26	EP300	chr11:55427122-55427140	GM12878	blood:	n/a	n/a
27	EP300	chr11:55425510-55425982	GM12878	blood:	n/a	n/a
28	EP300	chr11:55425443-55426213	GM12878	blood:	n/a	n/a
29	EP300	chr11:55425490-55426443	GM12878	blood:	n/a	n/a
30	EP300	chr11:55420253-55420322	GM12878	blood:	n/a	n/a
31	FOS	chr11:55392108-55392256	MCF10A-Er-Src	breast:	n/a	n/a
32	IRF4	chr11:55425358-55425895	GM12878	blood:	n/a	n/a
33	IRF4	chr11:55425485-55425774	GM12878	blood:	n/a	n/a
34	JUND	chr11:55425652-55425799	HepG2	liver:	n/a	n/a
35	JUND	chr11:55425391-55426307	GM12878	blood:	n/a	n/a
36	JUND	chr11:55392113-55392306	HepG2	liver:	n/a	chr11:55392221-55392232
37	JUND	chr11:55426911-55427185	GM12878	blood:	n/a	chr11:55427074-55427082 chr11:55427074-55427082 chr11:55427074-55427081
38	KAP1	chr11:55445027-55445529	K562	blood:	n/a	n/a
39	MAFF	chr11:55431801-55431816	HepG2	liver:	n/a	n/a
40	MAFF	chr11:55424528-55424595	HepG2	liver:	n/a	chr11:55424567-55424585
41	MAFK	chr11:55424516-55424647	HepG2	liver:	n/a	n/a
42	MAFK	chr11:55424526-55424590	HepG2	liver:	n/a	n/a
43	MAZ	chr11:55425583-55426083	GM12878	blood:	n/a	n/a
44	MXI1	chr11:55425489-55425850	GM12878	blood:	n/a	n/a
45	NFIC	chr11:55425511-55425807	GM12878	blood:	n/a	n/a
46	PAX5	chr11:55425455-55425925	GM12878	blood:	n/a	n/a
47	PAX5	chr11:55425546-55425778	GM12878	blood:	n/a	n/a
48	PAX5	chr11:55425547-55425782	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:55386129-55386132	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:55396293-55396304	A549	lung:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55431584-55431634	GM12878	blood:	n/a
2	chr11:55406191-55406241	AG10803	skin:	n/a
3	chr11:55431584-55431634	ovcar-3	ovarian:	n/a
4	chr11:55417018-55417068	HNPCEpiC	eye:	n/a
5	chr11:55406191-55406241	Jurkat	blood:	n/a
6	chr11:55418816-55418866	MCF10A-Er-Src	breast:	n/a
7	chr11:55431584-55431634	MCF10A-Er-Src	breast:	n/a
8	chr11:55418816-55418866	A549	lung:	n/a
9	chr11:55417018-55417068	BE2_C	brain:	n/a
10	chr11:55433005-55433055	Jurkat	blood:	n/a
11	chr11:55406191-55406241	HCT-116	colon:	n/a
12	chr11:55433005-55433055	GM19239	blood:	n/a
13	chr11:55433005-55433055	GM06990	blood:	n/a
14	chr11:55371077-55371127	NHDF-neo	bronchial:	n/a
15	chr11:55431152-55431202	ECC-1	luminal epithelium:	n/a
16	chr11:55418816-55418866	AG09309	skin:	n/a
17	chr11:55433005-55433055	T-47D	breast:	n/a
18	chr11:55418816-55418866	CMK	blood:	n/a
19	chr11:55417018-55417068	HRE	kidney:	n/a
20	chr11:55433005-55433055	HAEpiC	amniotic membrane:	n/a
21	chr11:55431584-55431634	HRPEpiC	eye:	n/a
22	chr11:55371077-55371127	U87	brain:	n/a
23	chr11:55371077-55371127	Hela-S3	cervix:	n/a
24	chr11:55406191-55406241	HRCEpiC	kidney:	n/a
25	chr11:55417018-55417068	AG04450	lung:	fetal
26	chr11:55431584-55431634	Hela-S3	cervix:	n/a
27	chr11:55431152-55431202	GM12891	blood:	n/a
28	chr11:55371077-55371127	SK-N-MC	brain:	n/a
29	chr11:55417018-55417068	NB4	blood:	n/a
30	chr11:55431584-55431634	SAEC	small airway:	n/a
31	chr11:55433005-55433055	AG04449	skin:	fetal
32	chr11:55433005-55433055	ECC-1	luminal epithelium:	n/a
33	chr11:55433005-55433055	K562	blood:	n/a
34	chr11:55433005-55433055	HCT-116	colon:	n/a
35	chr11:55431152-55431202	RPTEC	kidney:	n/a
36	chr11:55406191-55406241	HUVEC	blood vessel:	n/a
37	chr11:55418816-55418866	MCF-7	breast:	n/a
38	chr11:55417018-55417068	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:55371077-55371127	GM12878	blood:	n/a
40	chr11:55417018-55417068	HCF	heart:	n/a
41	chr11:55431152-55431202	PANC-1	pancreas:	n/a
42	chr11:55418816-55418866	HCT-116	colon:	n/a
43	chr11:55431152-55431202	SKMC	muscle:	n/a
44	chr11:55433005-55433055	PrEC	prostate:	n/a
45	chr11:55431152-55431202	LNCaP	prostate:	n/a
46	chr11:55418816-55418866	PANC-1	pancreas:	n/a
47	chr11:55418816-55418866	SK-N-SH	brain:	n/a
48	chr11:55431152-55431202	MCF10A-Er-Src	breast:	n/a
49	chr11:55433005-55433055	HRE	kidney:	n/a
50	chr11:55433005-55433055	HIPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804

No data

Variant related genes	Relation type
OR4S2	TF binding region
OR4P4	TF binding region
OR4C6	TF binding region
OR4C11	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4S2	CpG island
OR4P4	CpG island
OR4C6	CpG island
OR4C11	CpG island
OR4V1P	CpG island
OR4P1P	CpG island

Extended variants
information (count: 659 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:659 , 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	rs538362316	chr11:55372471-55372472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570266651	chr11:55372478-55372479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556871800	chr11:55372481-55372482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370690732	chr11:55373468-55373469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528328550	chr11:55373480-55373481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542294519	chr11:55395828-55395829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112479002	chr11:55395846-55395847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113205148	chr11:55395860-55395861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs36062315	chr11:55395886-55395887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531353248	chr11:55395899-55395900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12364838	chr11:55395922-55395923	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145473853	chr11:55395935-55395936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557751521	chr11:55395939-55395940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532821177	chr11:55395941-55395942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544127405	chr11:55395948-55395949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189955667	chr11:55395966-55395967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373896490	chr11:55395970-55395971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116162984	chr11:55396018-55396019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368155909	chr11:55396031-55396032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180804020	chr11:55396040-55396041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10897108	chr11:55396041-55396042	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12361051	chr11:55396055-55396056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537149724	chr11:55396061-55396062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148842153	chr11:55396079-55396080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143517164	chr11:55396080-55396081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111341928	chr11:55396107-55396108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34553202	chr11:55396184-55396185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571186755	chr11:55396195-55396196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572293421	chr11:55396207-55396208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77038864	chr11:55396235-55396236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560725717	chr11:55396238-55396239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12421157	chr11:55396301-55396302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570626053	chr11:55396302-55396303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543560110	chr11:55396343-55396344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565449607	chr11:55396368-55396369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532729301	chr11:55396378-55396379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76794057	chr11:55396399-55396400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559985094	chr11:55396426-55396427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113279056	chr11:55396470-55396471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567012179	chr11:55396487-55396488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142219064	chr11:55396507-55396508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569957781	chr11:55396527-55396528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201168152	chr11:55396536-55396537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76788391	chr11:55396545-55396546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs386373835	chr11:55396546-55396547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199776545	chr11:55396547-55396548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs398115399	chr11:55396551-55396552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371343350	chr11:55396552-55396553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371169330	chr11:55396555-55396556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374139389	chr11:55396556-55396557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
3	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
4	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
5	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
7	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
8	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
9	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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