Variant report

Variant	nsv1052441
Chromosome Location	chr11:55319822-55363328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
2	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
4	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
5	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
6	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA2	chr11:55344991-55345423	A549	lung:	n/a	n/a
8	JUN	chr11:55338964-55339079	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUN	chr11:55331477-55331723	HepG2	liver:	n/a	chr11:55331585-55331598 chr11:55331514-55331525
10	JUND	chr11:55320480-55320674	HepG2	liver:	n/a	chr11:55320597-55320609 chr11:55320599-55320607 chr11:55320599-55320606 chr11:55320598-55320608 chr11:55320598-55320607 chr11:55320597-55320608
11	JUND	chr11:55331518-55331748	HepG2	liver:	n/a	n/a
12	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
13	KAP1	chr11:55341552-55341915	K562	blood:	n/a	n/a
14	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
15	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a
16	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
17	MYC	chr11:55339299-55339416	MCF10A-Er-Src	breast:	n/a	n/a
18	NFYA	chr11:55320696-55320879	GM12878	blood:	n/a	n/a
19	PBX3	chr11:55340025-55340197	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:55319961-55320114	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:55358291-55358471	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:55355260-55355431	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:55357030-55357095	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:55323909-55323971	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:55336385-55336405	MCF10A-Er-Src	breast:	n/a	n/a
26	SPI1	chr11:55354821-55355189	HL-60	blood:	n/a	n/a
27	SPI1	chr11:55329256-55329405	K562	blood:	n/a	n/a
28	SPI1	chr11:55329242-55329410	K562	blood:	n/a	n/a
29	STAT3	chr11:55354055-55354255	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF143	chr11:55343466-55343733	H1-hESC	embryonic stem cell:	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	chr11:55338135-55338185	AG09309	skin:	n/a
2	chr11:55322753-55322803	PANC-1	pancreas:	n/a
3	chr11:55321480-55321530	SK-N-SH_RA	brain:	n/a
4	chr11:55321480-55321530	Jurkat	blood:	n/a
5	chr11:55322753-55322803	NT2-D1	testis:	n/a
6	chr11:55322753-55322803	ECC-1	luminal epithelium:	n/a
7	chr11:55339961-55340011	HMEC	breast:	n/a
8	chr11:55321480-55321530	HAEpiC	amniotic membrane:	n/a
9	chr11:55322753-55322803	HCM	heart:	n/a
10	chr11:55321480-55321530	HUVEC	blood vessel:	n/a
11	chr11:55338135-55338185	GM12892	blood:	n/a
12	chr11:55339961-55340011	HCM	heart:	n/a
13	chr11:55339961-55340011	HCF	heart:	n/a
14	chr11:55339961-55340011	SKMC	muscle:	n/a
15	chr11:55338135-55338185	AG10803	skin:	n/a
16	chr11:55338135-55338185	NB4	blood:	n/a
17	chr11:55321480-55321530	NHBE	bronchial:	n/a
18	chr11:55338135-55338185	HNPCEpiC	eye:	n/a
19	chr11:55322753-55322803	AG09309	skin:	n/a
20	chr11:55339961-55340011	HUVEC	blood vessel:	n/a
21	chr11:55322753-55322803	HEEpiC	esophagus:	n/a
22	chr11:55322753-55322803	HL-60	blood:	n/a
23	chr11:55338135-55338185	IMR90	lung:	fetal
24	chr11:55322753-55322803	HCT-116	colon:	n/a
25	chr11:55321480-55321530	SKMC	muscle:	n/a
26	chr11:55339961-55340011	AG04450	lung:	fetal
27	chr11:55321480-55321530	HEEpiC	esophagus:	n/a
28	chr11:55338135-55338185	Hela-S3	cervix:	n/a
29	chr11:55321480-55321530	HRE	kidney:	n/a
30	chr11:55322753-55322803	GM06990	blood:	n/a
31	chr11:55322753-55322803	SAEC	small airway:	n/a
32	chr11:55339961-55340011	U87	brain:	n/a
33	chr11:55338135-55338185	NT2-D1	testis:	n/a
34	chr11:55322753-55322803	GM19239	blood:	n/a
35	chr11:55321480-55321530	GM06990	blood:	n/a
36	chr11:55322753-55322803	A549	lung:	n/a
37	chr11:55322753-55322803	BE2_C	brain:	n/a
38	chr11:55339961-55340011	CMK	blood:	n/a
39	chr11:55322753-55322803	HRCEpiC	kidney:	n/a
40	chr11:55338135-55338185	A549	lung:	n/a
41	chr11:55339961-55340011	NHDF-neo	bronchial:	n/a
42	chr11:55338135-55338185	Hepatocyte	liver:	n/a
43	chr11:55339961-55340011	RPTEC	kidney:	n/a
44	chr11:55321480-55321530	BE2_C	brain:	n/a
45	chr11:55322753-55322803	HMEC	breast:	n/a
46	chr11:55339961-55340011	HIPEpiC	eye:	n/a
47	chr11:55321480-55321530	HRPEpiC	eye:	n/a
48	chr11:55339961-55340011	Caco-2	colon:	n/a
49	chr11:55338135-55338185	T-47D	breast:	n/a
50	chr11:55338135-55338185	GM12878	blood:	n/a

No data

Variant related genes	Relation type
OR4C16	TF binding region
OR4C15	TF binding region
OR4C16	CpG island
OR4C15	CpG island

Extended variants
information (count: 190 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576037252	chr11:55319961-55319962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536730445	chr11:55319965-55319966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558712210	chr11:55319975-55319976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs61919565	chr11:55319985-55319986	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143986948	chr11:55320000-55320001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560044624	chr11:55320011-55320012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555827419	chr11:55320030-55320031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573566457	chr11:55320031-55320032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575032748	chr11:55320046-55320047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542555538	chr11:55320048-55320049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563522886	chr11:55320084-55320085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186073203	chr11:55320087-55320088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs982276	chr11:55320099-55320100	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190926366	chr11:55320104-55320105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534632627	chr11:55320105-55320106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs114596166	chr11:55320110-55320111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs17581414	chr11:55320482-55320483	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372987709	chr11:55320494-55320495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3972677	chr11:55320510-55320511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35175662	chr11:55320511-55320512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538953	chr11:55320564-55320565	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs505338	chr11:55320583-55320584	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs545811337	chr11:55320606-55320607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528568472	chr11:55320729-55320730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539857146	chr11:55320735-55320736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191366493	chr11:55320763-55320764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs61919566	chr11:55320765-55320766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559275093	chr11:55320800-55320801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs148608060	chr11:55320823-55320824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548155983	chr11:55320824-55320825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs55972122	chr11:55320834-55320835	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558066557	chr11:55321480-55321481	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs572871550	chr11:55321483-55321484	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs492480	chr11:55321513-55321514	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs574347618	chr11:55325804-55325805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577660852	chr11:55325813-55325814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183578221	chr11:55325830-55325831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560504629	chr11:55325832-55325833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572628926	chr11:55325843-55325844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75752693	chr11:55325866-55325867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188019277	chr11:55325883-55325884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11230131	chr11:55325890-55325891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576523000	chr11:55325919-55325920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs506988	chr11:55325928-55325929	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561052795	chr11:55325936-55325937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144523780	chr11:55325967-55325968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562686441	chr11:55325981-55325982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532492966	chr11:55325987-55325988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10897001	chr11:55325989-55325990	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11230132	chr11:55325990-55325991	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
5	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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