Variant report

Variant	nsv1047882
Chromosome Location	chr11:55241003-55386385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55312931-55313225	HepG2	liver:	n/a	chr11:55313093-55313104
2	CEBPB	chr11:55268173-55268348	K562	blood:	n/a	n/a
3	CEBPB	chr11:55290616-55290841	HepG2	liver:	n/a	chr11:55290662-55290673
4	CTCF	chr11:55271083-55271175	HepG2	liver:	n/a	n/a
5	CTCF	chr11:55270960-55271110	GM12867	blood:	n/a	n/a
6	CTCF	chr11:55271040-55271190	GM06990	blood:	n/a	n/a
7	CTCF	chr11:55271042-55271246	LNCaP	prostate:	n/a	n/a
8	CTCF	chr11:55271123-55271159	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr11:55271040-55271190	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:55271050-55271261	Gliobla	brain:	n/a	n/a
11	CTCF	chr11:55271060-55271210	GM12873	blood:	n/a	n/a
12	CTCF	chr11:55271040-55271190	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr11:55271080-55271230	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr11:55271043-55271202	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:55271080-55271230	GM12872	blood:	n/a	n/a
16	CTCF	chr11:55269100-55269155	Lung_OC	lung:	n/a	n/a
17	CTCF	chr11:55271000-55271150	GM12869	blood:	n/a	n/a
18	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:55270968-55271188	A549	lung:	n/a	n/a
20	CTCF	chr11:55271040-55271190	NB4	blood:	n/a	n/a
21	CTCF	chr11:55271120-55271270	GM12865	blood:	n/a	n/a
22	CTCF	chr11:55271000-55271150	HEK293	kidney:	n/a	n/a
23	CTCF	chr11:55271191-55271193	K562	blood:	n/a	n/a
24	CTCF	chr11:55364416-55364457	GM13977	blood:	n/a	n/a
25	CTCF	chr11:55271060-55271210	A549	lung:	n/a	n/a
26	CTCF	chr11:55271023-55271232	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr11:55271073-55271164	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:55271018-55271294	K562	blood:	n/a	n/a
30	CTCF	chr11:55271040-55271190	GM12873	blood:	n/a	n/a
31	CTCF	chr11:55295940-55296090	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr11:55271060-55271210	HEK293	kidney:	n/a	n/a
33	CTCF	chr11:55271058-55271188	K562	blood:	n/a	n/a
34	CTCF	chr11:55271060-55271210	GM12874	blood:	n/a	n/a
35	CTCF	chr11:55302167-55302267	GM10248	blood:	n/a	n/a
36	CTCF	chr11:55270919-55271230	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:55270980-55271130	GM12866	blood:	n/a	n/a
38	CTCF	chr11:55271125-55271152	GM12878	blood:	n/a	n/a
39	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
40	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
41	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
42	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
43	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
44	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr11:55248962-55249339	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr11:55248955-55249222	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr11:55248941-55249330	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:55242790-55242813	MCF10A-Er-Src	breast:	n/a	n/a
49	FOXA1	chr11:55288073-55288409	HepG2	liver:	n/a	n/a
50	FOXA2	chr11:55288090-55288346	A549	lung:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55321480-55321530	LNCaP	prostate:	n/a
2	chr11:55338135-55338185	AG10803	skin:	n/a
3	chr11:55321480-55321530	RPTEC	kidney:	n/a
4	chr11:55339961-55340011	HMEC	breast:	n/a
5	chr11:55338135-55338185	NHDF-neo	bronchial:	n/a
6	chr11:55321480-55321530	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:55322753-55322803	HCM	heart:	n/a
8	chr11:55338135-55338185	ECC-1	luminal epithelium:	n/a
9	chr11:55338135-55338185	HUVEC	blood vessel:	n/a
10	chr11:55322753-55322803	HMEC	breast:	n/a
11	chr11:55371077-55371127	ProgFib	skin:	n/a
12	chr11:55339961-55340011	AoSMC	blood vessel:	n/a
13	chr11:55339961-55340011	SAEC	small airway:	n/a
14	chr11:55339961-55340011	HRCEpiC	kidney:	n/a
15	chr11:55371077-55371127	ovcar-3	ovarian:	n/a
16	chr11:55338135-55338185	BE2_C	brain:	n/a
17	chr11:55371077-55371127	K562	blood:	n/a
18	chr11:55321480-55321530	A549	lung:	n/a
19	chr11:55339961-55340011	AG09309	skin:	n/a
20	chr11:55339961-55340011	HCT-116	colon:	n/a
21	chr11:55338135-55338185	GM12892	blood:	n/a
22	chr11:55322753-55322803	CMK	blood:	n/a
23	chr11:55338135-55338185	BJ	skin:	n/a
24	chr11:55322753-55322803	NT2-D1	testis:	n/a
25	chr11:55371077-55371127	AoSMC	blood vessel:	n/a
26	chr11:55339961-55340011	NH-A	brain:	n/a
27	chr11:55338135-55338185	GM12891	blood:	n/a
28	chr11:55338135-55338185	LNCaP	prostate:	n/a
29	chr11:55339961-55340011	HUVEC	blood vessel:	n/a
30	chr11:55338135-55338185	CMK	blood:	n/a
31	chr11:55322753-55322803	HL-60	blood:	n/a
32	chr11:55371077-55371127	HCF	heart:	n/a
33	chr11:55339961-55340011	A549	lung:	n/a
34	chr11:55371077-55371127	Caco-2	colon:	n/a
35	chr11:55339961-55340011	HRE	kidney:	n/a
36	chr11:55371077-55371127	Hepatocyte	liver:	n/a
37	chr11:55338135-55338185	GM12878	blood:	n/a
38	chr11:55321480-55321530	HEK293	kidney:	embryo
39	chr11:55371077-55371127	HAEpiC	amniotic membrane:	n/a
40	chr11:55339961-55340011	Hepatocyte	liver:	n/a
41	chr11:55371077-55371127	AG04449	skin:	fetal
42	chr11:55321480-55321530	SK-N-SH_RA	brain:	n/a
43	chr11:55321480-55321530	HIPEpiC	eye:	n/a
44	chr11:55339961-55340011	SK-N-SH	brain:	n/a
45	chr11:55371077-55371127	HEEpiC	esophagus:	n/a
46	chr11:55322753-55322803	BE2_C	brain:	n/a
47	chr11:55339961-55340011	AG04449	skin:	fetal
48	chr11:55338135-55338185	AG04449	skin:	fetal
49	chr11:55322753-55322803	NB4	blood:	n/a
50	chr11:55371077-55371127	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
OR4C11	TF binding region
OR4C16	TF binding region
OR4A21P	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4C1P	TF binding region
OR4C15	TF binding region
OR4C14P	TF binding region
OR4C11	CpG island
OR4C16	CpG island
OR4A21P	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4C1P	CpG island
OR4C15	CpG island
OR4C14P	CpG island

Extended variants
information (count: 1242 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144406055	chr11:55242810-55242811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs374131517	chr11:55243214-55243215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112605292	chr11:55243238-55243239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61917998	chr11:55243250-55243251	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558447150	chr11:55243279-55243280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149126532	chr11:55243287-55243288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534851261	chr11:55243295-55243296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113427083	chr11:55243303-55243304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574920075	chr11:55243305-55243306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11229880	chr11:55243334-55243335	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563727646	chr11:55243367-55243368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77371323	chr11:55243388-55243389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116454026	chr11:55243391-55243392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113714066	chr11:55243396-55243397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186053353	chr11:55243426-55243427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528759742	chr11:55243427-55243428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547219241	chr11:55243435-55243436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146813718	chr11:55243437-55243438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529448883	chr11:55243489-55243490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372760755	chr11:55243495-55243496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547883569	chr11:55243518-55243519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373748030	chr11:55243553-55243554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569382797	chr11:55243556-55243557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530439679	chr11:55243561-55243562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs367624749	chr11:55243568-55243569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570749674	chr11:55243569-55243570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534607611	chr11:55243578-55243579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557508	chr11:55243584-55243585	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs492647	chr11:55253629-55253630	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376673868	chr11:55253633-55253634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs141805373	chr11:55253649-55253650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2169004	chr11:55253692-55253693	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531306087	chr11:55253702-55253703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11602380	chr11:55253712-55253713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544965	chr11:55253771-55253772	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534659937	chr11:55253774-55253775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs150593012	chr11:55253779-55253780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111992483	chr11:55253786-55253787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369738817	chr11:55253791-55253792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558012661	chr11:55253793-55253794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549891720	chr11:55253797-55253798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560864501	chr11:55253800-55253801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs73467506	chr11:55255723-55255724	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189518045	chr11:55255741-55255742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556555251	chr11:55255746-55255747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs551689685	chr11:55255780-55255781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373961745	chr11:55255792-55255793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs534448457	chr11:55255799-55255800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs549300259	chr11:55255804-55255805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567805752	chr11:55255823-55255824	Inactive region	TF binding region	1 gene(s)	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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55260600-55262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:55263400-55263600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:55268600-55270400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea
6	chr11:55277400-55277800	ZNF genes & repeats	Pancreas	Pancrea
7	chr11:55277400-55278000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr11:55282000-55282400	Active TSS	Fetal Heart	heart
9	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
14	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus

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