Variant report

Variant	nsv975112
Chromosome Location	chr11:55321812-55426168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 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	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
3	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
8	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
9	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
12	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
13	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
14	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:55364416-55364457	GM13977	blood:	n/a	n/a
17	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
18	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr11:55425514-55425729	GM12878	blood:	n/a	n/a
20	EBF1	chr11:55425375-55426123	GM12878	blood:	n/a	n/a
21	EBF1	chr11:55425437-55426072	GM12878	blood:	n/a	n/a
22	EP300	chr11:55425490-55426443	GM12878	blood:	n/a	n/a
23	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
24	EP300	chr11:55425443-55426213	GM12878	blood:	n/a	n/a
25	EP300	chr11:55425510-55425982	GM12878	blood:	n/a	n/a
26	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
27	EP300	chr11:55420253-55420322	GM12878	blood:	n/a	n/a
28	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
29	FOS	chr11:55392108-55392256	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA2	chr11:55344991-55345423	A549	lung:	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	JUN	chr11:55338964-55339079	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUN	chr11:55331477-55331723	HepG2	liver:	n/a	chr11:55331585-55331598 chr11:55331514-55331525
36	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
37	JUND	chr11:55331518-55331748	HepG2	liver:	n/a	n/a
38	JUND	chr11:55425391-55426307	GM12878	blood:	n/a	n/a
39	JUND	chr11:55425652-55425799	HepG2	liver:	n/a	n/a
40	JUND	chr11:55392113-55392306	HepG2	liver:	n/a	chr11:55392221-55392232
41	KAP1	chr11:55341552-55341915	K562	blood:	n/a	n/a
42	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
43	MAFF	chr11:55424528-55424595	HepG2	liver:	n/a	chr11:55424567-55424585
44	MAFK	chr11:55424526-55424590	HepG2	liver:	n/a	n/a
45	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a
46	MAFK	chr11:55424516-55424647	HepG2	liver:	n/a	n/a
47	MAZ	chr11:55425583-55426083	GM12878	blood:	n/a	n/a
48	MXI1	chr11:55425489-55425850	GM12878	blood:	n/a	n/a
49	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
50	MYC	chr11:55339299-55339416	MCF10A-Er-Src	breast:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55406191-55406241	SAEC	small airway:	n/a
2	chr11:55406191-55406241	SAEC	small airway:	n/a
3	chr11:55322753-55322803	K562	blood:	n/a
4	chr11:55417018-55417068	HL-60	blood:	n/a
5	chr11:55339961-55340011	ECC-1	luminal epithelium:	n/a
6	chr11:55322753-55322803	HIPEpiC	eye:	n/a
7	chr11:55406191-55406241	BJ	skin:	n/a
8	chr11:55418816-55418866	GM19239	blood:	n/a
9	chr11:55371077-55371127	Caco-2	colon:	n/a
10	chr11:55418816-55418866	RPTEC	kidney:	n/a
11	chr11:55406191-55406241	MCF-7	breast:	n/a
12	chr11:55406191-55406241	HMEC	breast:	n/a
13	chr11:55339961-55340011	HCM	heart:	n/a
14	chr11:55338135-55338185	AG09319	gingival:	n/a
15	chr11:55338135-55338185	HNPCEpiC	eye:	n/a
16	chr11:55371077-55371127	NT2-D1	testis:	n/a
17	chr11:55371077-55371127	NHBE	bronchial:	n/a
18	chr11:55371077-55371127	HEK293	kidney:	embryo
19	chr11:55406191-55406241	GM12891	blood:	n/a
20	chr11:55338135-55338185	GM12878	blood:	n/a
21	chr11:55371077-55371127	HEEpiC	esophagus:	n/a
22	chr11:55338135-55338185	T-47D	breast:	n/a
23	chr11:55371077-55371127	AG04449	skin:	fetal
24	chr11:55338135-55338185	GM12891	blood:	n/a
25	chr11:55338135-55338185	NHBE	bronchial:	n/a
26	chr11:55338135-55338185	Jurkat	blood:	n/a
27	chr11:55406191-55406241	Hela-S3	cervix:	n/a
28	chr11:55339961-55340011	A549	lung:	n/a
29	chr11:55338135-55338185	LNCaP	prostate:	n/a
30	chr11:55338135-55338185	ProgFib	skin:	n/a
31	chr11:55322753-55322803	IMR90	lung:	fetal
32	chr11:55406191-55406241	LNCaP	prostate:	n/a
33	chr11:55371077-55371127	A549	lung:	n/a
34	chr11:55322753-55322803	SK-N-SH_RA	brain:	n/a
35	chr11:55339961-55340011	GM06990	blood:	n/a
36	chr11:55338135-55338185	ECC-1	luminal epithelium:	n/a
37	chr11:55417018-55417068	Hela-S3	cervix:	n/a
38	chr11:55322753-55322803	U87	brain:	n/a
39	chr11:55322753-55322803	NHBE	bronchial:	n/a
40	chr11:55406191-55406241	BE2_C	brain:	n/a
41	chr11:55322753-55322803	GM06990	blood:	n/a
42	chr11:55371077-55371127	HL-60	blood:	n/a
43	chr11:55417018-55417068	H1-hESC	embryonic stem cell:	embryo
44	chr11:55417018-55417068	AG09309	skin:	n/a
45	chr11:55371077-55371127	GM12892	blood:	n/a
46	chr11:55418816-55418866	AoSMC	blood vessel:	n/a
47	chr11:55338135-55338185	ovcar-3	ovarian:	n/a
48	chr11:55406191-55406241	HCT-116	colon:	n/a
49	chr11:55339961-55340011	HEEpiC	esophagus:	n/a
50	chr11:55417018-55417068	IMR90	lung:	fetal

No data

Variant related genes	Relation type
OR4S2	TF binding region
OR4P4	TF binding region
OR4C11	TF binding region
OR4C16	TF binding region
OR4S2	CpG island
OR4P4	CpG island
OR4C11	CpG island
OR4C16	CpG island

Extended variants
information (count: 682 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:682 , 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	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: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
Melanoma	20877625	CNVD

Chromatin state (count:14 , 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
8	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
9	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
10	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
11	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
14	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood

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