Variant report

Variant	nsv1053726
Chromosome Location	chr11:55351524-55429961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 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	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
10	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
11	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
13	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
14	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
15	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
16	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr11:55364416-55364457	GM13977	blood:	n/a	n/a
19	CTCF	chr11:55429279-55429413	GM19238	blood:	n/a	chr11:55429353-55429366 chr11:55429358-55429366 chr11:55429351-55429369
20	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr11:55425375-55426123	GM12878	blood:	n/a	n/a
22	EBF1	chr11:55425437-55426072	GM12878	blood:	n/a	n/a
23	EBF1	chr11:55425514-55425729	GM12878	blood:	n/a	n/a
24	EP300	chr11:55427002-55427191	GM12878	blood:	n/a	chr11:55427074-55427083
25	EP300	chr11:55425510-55425982	GM12878	blood:	n/a	n/a
26	EP300	chr11:55425490-55426443	GM12878	blood:	n/a	n/a
27	EP300	chr11:55420253-55420322	GM12878	blood:	n/a	n/a
28	EP300	chr11:55427122-55427140	GM12878	blood:	n/a	n/a
29	EP300	chr11:55425443-55426213	GM12878	blood:	n/a	n/a
30	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:55392108-55392256	MCF10A-Er-Src	breast:	n/a	n/a
32	IRF4	chr11:55425485-55425774	GM12878	blood:	n/a	n/a
33	IRF4	chr11:55425358-55425895	GM12878	blood:	n/a	n/a
34	JUND	chr11:55426911-55427185	GM12878	blood:	n/a	chr11:55427074-55427082 chr11:55427074-55427082 chr11:55427074-55427081
35	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
36	JUND	chr11:55425391-55426307	GM12878	blood:	n/a	n/a
37	JUND	chr11:55425652-55425799	HepG2	liver:	n/a	n/a
38	JUND	chr11:55392113-55392306	HepG2	liver:	n/a	chr11:55392221-55392232
39	MAFF	chr11:55424528-55424595	HepG2	liver:	n/a	chr11:55424567-55424585
40	MAFK	chr11:55424526-55424590	HepG2	liver:	n/a	n/a
41	MAFK	chr11:55424516-55424647	HepG2	liver:	n/a	n/a
42	MAZ	chr11:55425583-55426083	GM12878	blood:	n/a	n/a
43	MXI1	chr11:55425489-55425850	GM12878	blood:	n/a	n/a
44	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
45	NFIC	chr11:55425511-55425807	GM12878	blood:	n/a	n/a
46	PAX5	chr11:55425547-55425782	GM12878	blood:	n/a	n/a
47	PAX5	chr11:55425546-55425778	GM12878	blood:	n/a	n/a
48	PAX5	chr11:55425455-55425925	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:55372470-55372482	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:55357030-55357095	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55417018-55417068	HCM	heart:	n/a
2	chr11:55406191-55406241	HRPEpiC	eye:	n/a
3	chr11:55418816-55418866	NHDF-neo	bronchial:	n/a
4	chr11:55417018-55417068	GM06990	blood:	n/a
5	chr11:55417018-55417068	BE2_C	brain:	n/a
6	chr11:55371077-55371127	GM12891	blood:	n/a
7	chr11:55406191-55406241	BE2_C	brain:	n/a
8	chr11:55417018-55417068	NB4	blood:	n/a
9	chr11:55417018-55417068	NHDF-neo	bronchial:	n/a
10	chr11:55371077-55371127	MCF10A-Er-Src	breast:	n/a
11	chr11:55371077-55371127	NHBE	bronchial:	n/a
12	chr11:55371077-55371127	HRE	kidney:	n/a
13	chr11:55418816-55418866	HAEpiC	amniotic membrane:	n/a
14	chr11:55406191-55406241	NH-A	brain:	n/a
15	chr11:55418816-55418866	LNCaP	prostate:	n/a
16	chr11:55371077-55371127	AG04449	skin:	fetal
17	chr11:55417018-55417068	HRCEpiC	kidney:	n/a
18	chr11:55371077-55371127	H1-hESC	embryonic stem cell:	embryo
19	chr11:55417018-55417068	HRPEpiC	eye:	n/a
20	chr11:55371077-55371127	GM12892	blood:	n/a
21	chr11:55417018-55417068	GM12878	blood:	n/a
22	chr11:55418816-55418866	HL-60	blood:	n/a
23	chr11:55371077-55371127	HAEpiC	amniotic membrane:	n/a
24	chr11:55406191-55406241	ovcar-3	ovarian:	n/a
25	chr11:55417018-55417068	IMR90	lung:	fetal
26	chr11:55418816-55418866	T-47D	breast:	n/a
27	chr11:55418816-55418866	AG09309	skin:	n/a
28	chr11:55418816-55418866	SKMC	muscle:	n/a
29	chr11:55417018-55417068	NH-A	brain:	n/a
30	chr11:55406191-55406241	HMEC	breast:	n/a
31	chr11:55417018-55417068	AG10803	skin:	n/a
32	chr11:55406191-55406241	CMK	blood:	n/a
33	chr11:55417018-55417068	HAEpiC	amniotic membrane:	n/a
34	chr11:55371077-55371127	HEK293	kidney:	embryo
35	chr11:55418816-55418866	BJ	skin:	n/a
36	chr11:55406191-55406241	HNPCEpiC	eye:	n/a
37	chr11:55418816-55418866	HEEpiC	esophagus:	n/a
38	chr11:55417018-55417068	NT2-D1	testis:	n/a
39	chr11:55406191-55406241	BJ	skin:	n/a
40	chr11:55417018-55417068	T-47D	breast:	n/a
41	chr11:55371077-55371127	HRCEpiC	kidney:	n/a
42	chr11:55418816-55418866	MCF-7	breast:	n/a
43	chr11:55418816-55418866	AG04449	skin:	fetal
44	chr11:55371077-55371127	BE2_C	brain:	n/a
45	chr11:55406191-55406241	NHBE	bronchial:	n/a
46	chr11:55406191-55406241	HUVEC	blood vessel:	n/a
47	chr11:55406191-55406241	GM19239	blood:	n/a
48	chr11:55406191-55406241	NHDF-neo	bronchial:	n/a
49	chr11:55417018-55417068	AG04449	skin:	fetal
50	chr11:55417018-55417068	HepG2	liver:	n/a

No data

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

Extended variants
information (count: 607 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:607 , 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	rs552504733	chr11:55353815-55353816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141207036	chr11:55353833-55353834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571075901	chr11:55353837-55353838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs56295433	chr11:55353843-55353844	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540880	chr11:55353866-55353867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113513006	chr11:55353878-55353879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568446054	chr11:55353879-55353880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187415161	chr11:55353939-55353940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557483587	chr11:55353953-55353954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11604257	chr11:55353966-55353967	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs56292460	chr11:55353977-55353978	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558494873	chr11:55354000-55354001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577034713	chr11:55354004-55354005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144471256	chr11:55354027-55354028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547759424	chr11:55354029-55354030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146972485	chr11:55354031-55354032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570863945	chr11:55354049-55354050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531107424	chr11:55354062-55354063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78161604	chr11:55354089-55354090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574091887	chr11:55354106-55354107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61895192	chr11:55354108-55354109	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371836360	chr11:55354109-55354110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556358901	chr11:55354150-55354151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs57556042	chr11:55354157-55354158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138825282	chr11:55354158-55354159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570042806	chr11:55354173-55354174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192161599	chr11:55354179-55354180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564538308	chr11:55354206-55354207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184583804	chr11:55354213-55354214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368660976	chr11:55354217-55354218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547313137	chr11:55354218-55354219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190004044	chr11:55354222-55354223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs180836468	chr11:55354229-55354230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs660341	chr11:55354230-55354231	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs61895193	chr11:55354239-55354240	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149368166	chr11:55354271-55354272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551885696	chr11:55354350-55354351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533507481	chr11:55354376-55354377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570290895	chr11:55354384-55354385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11822906	chr11:55354389-55354390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552838586	chr11:55354395-55354396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372177320	chr11:55354399-55354400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555835004	chr11:55354410-55354411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11602723	chr11:55354417-55354418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567294	chr11:55354423-55354424	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61895194	chr11:55354435-55354436	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141972374	chr11:55354441-55354442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540683197	chr11:55354453-55354454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184580399	chr11:55354465-55354466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564063321	chr11:55354481-55354482	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
Non-syndromic sensorineural hearing loss	21293372	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
3	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
5	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
6	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
7	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
10	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
11	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum

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