Variant report

Variant	nsv522846
Chromosome Location	chr11:55322539-55396041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:55364416-55364457	GM13977	blood:	n/a	n/a
2	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
4	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
5	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
7	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
8	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
9	FOS	chr11:55392108-55392256	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr11:55344991-55345423	A549	lung:	n/a	n/a
12	JUN	chr11:55338964-55339079	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUN	chr11:55331477-55331723	HepG2	liver:	n/a	chr11:55331585-55331598 chr11:55331514-55331525
14	JUND	chr11:55331518-55331748	HepG2	liver:	n/a	n/a
15	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
16	JUND	chr11:55392113-55392306	HepG2	liver:	n/a	chr11:55392221-55392232
17	KAP1	chr11:55341552-55341915	K562	blood:	n/a	n/a
18	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
19	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a
20	MYC	chr11:55339299-55339416	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
22	PBX3	chr11:55340025-55340197	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:55355260-55355431	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	POLR2A	chr11:55386129-55386132	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:55392958-55392968	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:55357030-55357095	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:55372470-55372482	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:55368009-55368020	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:55358291-55358471	MCF10A-Er-Src	breast:	n/a	n/a
32	RFX5	chr11:55366246-55366378	K562	blood:	n/a	n/a
33	SPI1	chr11:55329242-55329410	K562	blood:	n/a	n/a
34	SPI1	chr11:55329256-55329405	K562	blood:	n/a	n/a
35	SPI1	chr11:55354821-55355189	HL-60	blood:	n/a	n/a
36	STAT3	chr11:55373434-55373499	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:55354055-55354255	MCF10A-Er-Src	breast:	n/a	n/a
38	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	chr11:55322753-55322803	HCM	heart:	n/a
2	chr11:55339961-55340011	AG09309	skin:	n/a
3	chr11:55339961-55340011	Caco-2	colon:	n/a
4	chr11:55371077-55371127	RPTEC	kidney:	n/a
5	chr11:55339961-55340011	MCF-7	breast:	n/a
6	chr11:55371077-55371127	HL-60	blood:	n/a
7	chr11:55371077-55371127	U87	brain:	n/a
8	chr11:55371077-55371127	HRPEpiC	eye:	n/a
9	chr11:55371077-55371127	ProgFib	skin:	n/a
10	chr11:55339961-55340011	Jurkat	blood:	n/a
11	chr11:55322753-55322803	RPTEC	kidney:	n/a
12	chr11:55339961-55340011	ProgFib	skin:	n/a
13	chr11:55339961-55340011	T-47D	breast:	n/a
14	chr11:55338135-55338185	HCT-116	colon:	n/a
15	chr11:55371077-55371127	HCT-116	colon:	n/a
16	chr11:55371077-55371127	AG04449	skin:	fetal
17	chr11:55339961-55340011	HRPEpiC	eye:	n/a
18	chr11:55339961-55340011	HCPEpiC	choroid plexus:	n/a
19	chr11:55339961-55340011	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:55338135-55338185	T-47D	breast:	n/a
21	chr11:55371077-55371127	Jurkat	blood:	n/a
22	chr11:55371077-55371127	Hepatocyte	liver:	n/a
23	chr11:55338135-55338185	HAEpiC	amniotic membrane:	n/a
24	chr11:55338135-55338185	Caco-2	colon:	n/a
25	chr11:55339961-55340011	NB4	blood:	n/a
26	chr11:55339961-55340011	HNPCEpiC	eye:	n/a
27	chr11:55322753-55322803	ProgFib	skin:	n/a
28	chr11:55338135-55338185	GM12878	blood:	n/a
29	chr11:55371077-55371127	HCPEpiC	choroid plexus:	n/a
30	chr11:55338135-55338185	HRCEpiC	kidney:	n/a
31	chr11:55339961-55340011	AG04450	lung:	fetal
32	chr11:55371077-55371127	HCF	heart:	n/a
33	chr11:55371077-55371127	HepG2	liver:	n/a
34	chr11:55322753-55322803	GM06990	blood:	n/a
35	chr11:55338135-55338185	NHDF-neo	bronchial:	n/a
36	chr11:55338135-55338185	HEK293	kidney:	embryo
37	chr11:55322753-55322803	PFSK-1	brain:	n/a
38	chr11:55371077-55371127	HMEC	breast:	n/a
39	chr11:55339961-55340011	Hepatocyte	liver:	n/a
40	chr11:55338135-55338185	PANC-1	pancreas:	n/a
41	chr11:55322753-55322803	ECC-1	luminal epithelium:	n/a
42	chr11:55322753-55322803	CMK	blood:	n/a
43	chr11:55338135-55338185	HL-60	blood:	n/a
44	chr11:55339961-55340011	HMEC	breast:	n/a
45	chr11:55371077-55371127	HIPEpiC	eye:	n/a
46	chr11:55339961-55340011	IMR90	lung:	fetal
47	chr11:55339961-55340011	HL-60	blood:	n/a
48	chr11:55339961-55340011	BE2_C	brain:	n/a
49	chr11:55371077-55371127	GM19239	blood:	n/a
50	chr11:55339961-55340011	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR4C11	TF binding region
OR4C16	TF binding region
OR4C11	CpG island
OR4C16	CpG island

Extended variants
information (count: 206 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574347618	chr11:55325804-55325805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577660852	chr11:55325813-55325814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183578221	chr11:55325830-55325831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560504629	chr11:55325832-55325833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572628926	chr11:55325843-55325844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75752693	chr11:55325866-55325867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188019277	chr11:55325883-55325884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11230131	chr11:55325890-55325891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576523000	chr11:55325919-55325920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs506988	chr11:55325928-55325929	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561052795	chr11:55325936-55325937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144523780	chr11:55325967-55325968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562686441	chr11:55325981-55325982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532492966	chr11:55325987-55325988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10897001	chr11:55325989-55325990	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11230132	chr11:55325990-55325991	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551296839	chr11:55326000-55326001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577758992	chr11:55337802-55337803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535153477	chr11:55337807-55337808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536892132	chr11:55337809-55337810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75409911	chr11:55337841-55337842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138785960	chr11:55337844-55337845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77853930	chr11:55337862-55337863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554914272	chr11:55337868-55337869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533435656	chr11:55337870-55337871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192212867	chr11:55337873-55337874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183693240	chr11:55337916-55337917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567204424	chr11:55337921-55337922	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564899899	chr11:55337923-55337924	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576846365	chr11:55337981-55337982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138705711	chr11:55337996-55337997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs484860	chr11:55338008-55338009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11230173	chr11:55338029-55338030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530317375	chr11:55338082-55338083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61916565	chr11:55338095-55338096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563636727	chr11:55338107-55338108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531138098	chr11:55338127-55338128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140500769	chr11:55338130-55338131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367905007	chr11:55338136-55338137	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs570528698	chr11:55338143-55338144	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs528552380	chr11:55338162-55338163	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs547076705	chr11:55338164-55338165	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs371821537	chr11:55338171-55338172	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs537553265	chr11:55338196-55338197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565698407	chr11:55338197-55338198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74521312	chr11:55338227-55338228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554849684	chr11:55338236-55338237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569941920	chr11:55338241-55338242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190325918	chr11:55338328-55338329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554286122	chr11:55338347-55338348	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:7 , 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
6	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
7	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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