Variant report

Variant	nsv323
Chromosome Location	chr11:55359025-55470359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

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	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
3	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
4	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55427039-55427080	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	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
12	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
14	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
15	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
16	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
17	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
19	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
20	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
21	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
22	CTCF	chr11:55470140-55470290	AG10803	skin:	n/a	n/a
23	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:55429279-55429413	GM19238	blood:	n/a	chr11:55429353-55429366 chr11:55429358-55429366 chr11:55429351-55429369
25	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr11:55364416-55364457	GM13977	blood:	n/a	n/a
27	CTCF	chr11:55465639-55465657	IMR90	lung:	n/a	n/a
28	E2F4	chr11:55461177-55461377	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr11:55468605-55468637	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr11:55425514-55425729	GM12878	blood:	n/a	n/a
31	EBF1	chr11:55425375-55426123	GM12878	blood:	n/a	n/a
32	EBF1	chr11:55425437-55426072	GM12878	blood:	n/a	n/a
33	EP300	chr11:55425510-55425982	GM12878	blood:	n/a	n/a
34	EP300	chr11:55427002-55427191	GM12878	blood:	n/a	chr11:55427074-55427083
35	EP300	chr11:55420253-55420322	GM12878	blood:	n/a	n/a
36	EP300	chr11:55425443-55426213	GM12878	blood:	n/a	n/a
37	EP300	chr11:55425490-55426443	GM12878	blood:	n/a	n/a
38	EP300	chr11:55427122-55427140	GM12878	blood:	n/a	n/a
39	FOS	chr11:55392108-55392256	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXA1	chr11:55453476-55453669	T-47D	breast:	n/a	n/a
42	FOXA2	chr11:55453430-55453717	A549	lung:	n/a	n/a
43	FOXA2	chr11:55453309-55453838	A549	lung:	n/a	n/a
44	IRF4	chr11:55425485-55425774	GM12878	blood:	n/a	n/a
45	IRF4	chr11:55425358-55425895	GM12878	blood:	n/a	n/a
46	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
47	JUND	chr11:55425391-55426307	GM12878	blood:	n/a	n/a
48	JUND	chr11:55426911-55427185	GM12878	blood:	n/a	chr11:55427074-55427082 chr11:55427074-55427082 chr11:55427074-55427081
49	JUND	chr11:55425652-55425799	HepG2	liver:	n/a	n/a
50	JUND	chr11:55392113-55392306	HepG2	liver:	n/a	chr11:55392221-55392232

(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	HEK293	kidney:	embryo
2	chr11:55371077-55371127	PrEC	prostate:	n/a
3	chr11:55431584-55431634	HRE	kidney:	n/a
4	chr11:55418816-55418866	AG09309	skin:	n/a
5	chr11:55406191-55406241	HNPCEpiC	eye:	n/a
6	chr11:55418816-55418866	CMK	blood:	n/a
7	chr11:55431152-55431202	HepG2	liver:	n/a
8	chr11:55417018-55417068	H1-hESC	embryonic stem cell:	embryo
9	chr11:55371077-55371127	ovcar-3	ovarian:	n/a
10	chr11:55406191-55406241	HAEpiC	amniotic membrane:	n/a
11	chr11:55417018-55417068	SAEC	small airway:	n/a
12	chr11:55433005-55433055	BJ	skin:	n/a
13	chr11:55433005-55433055	HAEpiC	amniotic membrane:	n/a
14	chr11:55371077-55371127	HRCEpiC	kidney:	n/a
15	chr11:55431152-55431202	AG09309	skin:	n/a
16	chr11:55418816-55418866	IMR90	lung:	fetal
17	chr11:55433005-55433055	NT2-D1	testis:	n/a
18	chr11:55417018-55417068	PrEC	prostate:	n/a
19	chr11:55371077-55371127	RPTEC	kidney:	n/a
20	chr11:55417018-55417068	BE2_C	brain:	n/a
21	chr11:55433005-55433055	CMK	blood:	n/a
22	chr11:55418816-55418866	NHBE	bronchial:	n/a
23	chr11:55433005-55433055	K562	blood:	n/a
24	chr11:55418816-55418866	HEEpiC	esophagus:	n/a
25	chr11:55418816-55418866	HCF	heart:	n/a
26	chr11:55418816-55418866	K562	blood:	n/a
27	chr11:55406191-55406241	BE2_C	brain:	n/a
28	chr11:55431152-55431202	Hela-S3	cervix:	n/a
29	chr11:55406191-55406241	AG10803	skin:	n/a
30	chr11:55371077-55371127	HL-60	blood:	n/a
31	chr11:55371077-55371127	U87	brain:	n/a
32	chr11:55406191-55406241	HCPEpiC	choroid plexus:	n/a
33	chr11:55431152-55431202	NHBE	bronchial:	n/a
34	chr11:55406191-55406241	ovcar-3	ovarian:	n/a
35	chr11:55406191-55406241	HepG2	liver:	n/a
36	chr11:55371077-55371127	HEEpiC	esophagus:	n/a
37	chr11:55417018-55417068	PANC-1	pancreas:	n/a
38	chr11:55371077-55371127	K562	blood:	n/a
39	chr11:55431584-55431634	HRPEpiC	eye:	n/a
40	chr11:55406191-55406241	HIPEpiC	eye:	n/a
41	chr11:55371077-55371127	HCPEpiC	choroid plexus:	n/a
42	chr11:55406191-55406241	HRE	kidney:	n/a
43	chr11:55431584-55431634	HNPCEpiC	eye:	n/a
44	chr11:55433005-55433055	ECC-1	luminal epithelium:	n/a
45	chr11:55417018-55417068	HRCEpiC	kidney:	n/a
46	chr11:55406191-55406241	NB4	blood:	n/a
47	chr11:55433005-55433055	U87	brain:	n/a
48	chr11:55406191-55406241	ECC-1	luminal epithelium:	n/a
49	chr11:55431584-55431634	T-47D	breast:	n/a
50	chr11:55433005-55433055	PANC-1	pancreas:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804
2	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
ENSG00000254804	TF binding region
OR4C11	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4S2	CpG island
OR4P4	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR4C11	CpG island
OR4V1P	CpG island
OR4P1P	CpG island

Extended variants
information (count: 749 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373028285	chr11:55366852-55366853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187473907	chr11:55366880-55366881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377571772	chr11:55366906-55366907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370489376	chr11:55366907-55366908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375261873	chr11:55366908-55366909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368663279	chr11:55366909-55366910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370758344	chr11:55366911-55366912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs57614760	chr11:55366912-55366913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs386373834	chr11:55366913-55366914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200862434	chr11:55366914-55366915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201980788	chr11:55366915-55366916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575042781	chr11:55366916-55366917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs72910459	chr11:55366917-55366918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557657033	chr11:55366947-55366948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111663036	chr11:55366951-55366952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112477221	chr11:55366969-55366970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189924886	chr11:55366994-55366995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564483790	chr11:55366998-55366999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs610615	chr11:55367007-55367008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573202922	chr11:55367046-55367047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61895225	chr11:55367065-55367066	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538475371	chr11:55367074-55367075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561850012	chr11:55367124-55367125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529812520	chr11:55367158-55367159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547999177	chr11:55367161-55367162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563178930	chr11:55367168-55367169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530814355	chr11:55367170-55367171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74894573	chr11:55367173-55367174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570420256	chr11:55367174-55367175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538362316	chr11:55372471-55372472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570266651	chr11:55372478-55372479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556871800	chr11:55372481-55372482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370690732	chr11:55373468-55373469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528328550	chr11:55373480-55373481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542294519	chr11:55395828-55395829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112479002	chr11:55395846-55395847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113205148	chr11:55395860-55395861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs36062315	chr11:55395886-55395887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531353248	chr11:55395899-55395900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12364838	chr11:55395922-55395923	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145473853	chr11:55395935-55395936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557751521	chr11:55395939-55395940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532821177	chr11:55395941-55395942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544127405	chr11:55395948-55395949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189955667	chr11:55395966-55395967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373896490	chr11:55395970-55395971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116162984	chr11:55396018-55396019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368155909	chr11:55396031-55396032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs180804020	chr11:55396040-55396041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs10897108	chr11:55396041-55396042	ZNF genes & repeats	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
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
2	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
4	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
5	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
6	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
9	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
10	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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