Variant report

Variant	nsv983022
Chromosome Location	chr11:55192480-55245860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55195070-55195304	IMR90	lung:	n/a	chr11:55195175-55195186
2	CEBPB	chr11:55205280-55205382	HepG2	liver:	n/a	chr11:55205357-55205370 chr11:55205358-55205369
3	CEBPB	chr11:55217456-55217716	HepG2	liver:	n/a	chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217583-55217594 chr11:55217582-55217593
4	CEBPB	chr11:55225032-55225273	A549	lung:	n/a	n/a
5	CEBPB	chr11:55195039-55195318	HepG2	liver:	n/a	chr11:55195175-55195186
6	CEBPB	chr11:55237138-55237399	A549	lung:	n/a	chr11:55237275-55237286
7	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
8	CTCF	chr11:55227510-55227568	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:55233786-55233856	Lung_OC	lung:	n/a	n/a
10	CTCF	chr11:55197244-55197245	GM20000	blood:	n/a	n/a
11	CTCF	chr11:55227484-55227569	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:55227533-55227555	A549	lung:	n/a	n/a
13	CTCF	chr11:55227474-55227578	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:55197254-55197336	GM20000	blood:	n/a	n/a
15	CTCF	chr11:55227504-55227561	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:55227500-55227535	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:55227505-55227575	NHEK	skin:	n/a	n/a
18	E2F4	chr11:55222441-55222621	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr11:55240989-55240993	K562	blood:	n/a	n/a
20	FOS	chr11:55242790-55242813	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA2	chr11:55198488-55198916	A549	lung:	n/a	n/a
22	FOXA2	chr11:55227585-55228204	A549	lung:	n/a	n/a
23	FOXA2	chr11:55227650-55228079	A549	lung:	n/a	n/a
24	JUN	chr11:55239094-55239294	K562	blood:	n/a	n/a
25	JUND	chr11:55215728-55215945	HepG2	liver:	n/a	chr11:55215836-55215847
26	MAFF	chr11:55215763-55216021	HepG2	liver:	n/a	chr11:55215899-55215917
27	MAFK	chr11:55215738-55216034	HepG2	liver:	n/a	chr11:55215901-55215916
28	MAFK	chr11:55215768-55216022	HepG2	liver:	n/a	chr11:55215901-55215916
29	MAX	chr11:55226210-55226364	NB4	blood:	n/a	chr11:55226319-55226329
30	MAZ	chr11:55222588-55222604	GM12878	blood:	n/a	n/a
31	MYC	chr11:55227419-55227590	MCF-7	breast:	n/a	n/a
32	NR2F2	chr11:55198562-55198744	K562	blood:	n/a	n/a
33	PAX5	chr11:55238531-55238699	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:55227463-55227590	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:55237462-55237512	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:55222327-55222495	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:55227487-55227579	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:55240617-55240817	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:55227439-55227573	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:55236358-55236594	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:55227406-55227572	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:55238365-55238424	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:55227444-55227577	A549	lung:	n/a	n/a
44	POLR2A	chr11:55219103-55219303	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:55227390-55227613	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:55227389-55227697	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:55238373-55238468	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:55235959-55236097	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:55227388-55227579	K562	blood:	n/a	n/a
50	SPI1	chr11:55238516-55238700	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55227718-55227768	NT2-D1	testis:	n/a
2	chr11:55227646-55227696	SAEC	small airway:	n/a
3	chr11:55227718-55227768	HepG2	liver:	n/a
4	chr11:55227646-55227696	Hela-S3	cervix:	n/a
5	chr11:55227718-55227768	AG04450	lung:	fetal
6	chr11:55227718-55227768	A549	lung:	n/a
7	chr11:55227646-55227696	ProgFib	skin:	n/a
8	chr11:55227646-55227696	LNCaP	prostate:	n/a
9	chr11:55227646-55227696	HIPEpiC	eye:	n/a
10	chr11:55227646-55227696	K562	blood:	n/a
11	chr11:55227718-55227768	LNCaP	prostate:	n/a
12	chr11:55227718-55227768	SAEC	small airway:	n/a
13	chr11:55227718-55227768	HNPCEpiC	eye:	n/a
14	chr11:55227646-55227696	HRPEpiC	eye:	n/a
15	chr11:55227646-55227696	HAEpiC	amniotic membrane:	n/a
16	chr11:55227646-55227696	AG04450	lung:	fetal
17	chr11:55227646-55227696	GM12891	blood:	n/a
18	chr11:55227718-55227768	BJ	skin:	n/a
19	chr11:55227646-55227696	SK-N-SH	brain:	n/a
20	chr11:55227646-55227696	NH-A	brain:	n/a
21	chr11:55227718-55227768	AG09309	skin:	n/a
22	chr11:55227718-55227768	AG09319	gingival:	n/a
23	chr11:55227718-55227768	HCT-116	colon:	n/a
24	chr11:55227718-55227768	RPTEC	kidney:	n/a
25	chr11:55227646-55227696	HUVEC	blood vessel:	n/a
26	chr11:55227646-55227696	H1-hESC	embryonic stem cell:	embryo
27	chr11:55227718-55227768	ECC-1	luminal epithelium:	n/a
28	chr11:55227718-55227768	AG10803	skin:	n/a
29	chr11:55227646-55227696	GM06990	blood:	n/a
30	chr11:55227718-55227768	H1-hESC	embryonic stem cell:	embryo
31	chr11:55227646-55227696	HCPEpiC	choroid plexus:	n/a
32	chr11:55227646-55227696	HepG2	liver:	n/a
33	chr11:55227646-55227696	BJ	skin:	n/a
34	chr11:55227718-55227768	IMR90	lung:	fetal
35	chr11:55227646-55227696	HRCEpiC	kidney:	n/a
36	chr11:55227646-55227696	U87	brain:	n/a
37	chr11:55227646-55227696	NT2-D1	testis:	n/a
38	chr11:55227646-55227696	NHBE	bronchial:	n/a
39	chr11:55227646-55227696	HNPCEpiC	eye:	n/a
40	chr11:55227718-55227768	HL-60	blood:	n/a
41	chr11:55227646-55227696	PrEC	prostate:	n/a
42	chr11:55227718-55227768	NB4	blood:	n/a
43	chr11:55227646-55227696	HEEpiC	esophagus:	n/a
44	chr11:55227646-55227696	HMEC	breast:	n/a
45	chr11:55227718-55227768	SK-N-SH	brain:	n/a
46	chr11:55227718-55227768	HRE	kidney:	n/a
47	chr11:55227718-55227768	SKMC	muscle:	n/a
48	chr11:55227718-55227768	HRPEpiC	eye:	n/a
49	chr11:55227718-55227768	NHDF-neo	bronchial:	n/a
50	chr11:55227646-55227696	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
OR4A13P	TF binding region
ENSG00000255493	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4A10P	TF binding region
OR4A17P	TF binding region
OR4A13P	CpG island
ENSG00000255493	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4A10P	CpG island
OR4A17P	CpG island

Extended variants
information (count: 728 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:728 , 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	rs552227320	chr11:55195039-55195040	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs570423024	chr11:55195047-55195048	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs143961666	chr11:55195048-55195049	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs546574622	chr11:55195074-55195075	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs144920128	chr11:55195089-55195090	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs576742653	chr11:55195101-55195102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs1425196	chr11:55195166-55195167	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs190522409	chr11:55195211-55195212	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs113293914	chr11:55195220-55195221	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs558249549	chr11:55195246-55195247	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs115803034	chr11:55195249-55195250	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs1425195	chr11:55195255-55195256	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555335944	chr11:55195289-55195290	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs574032318	chr11:55195318-55195319	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs144713171	chr11:55197256-55197257	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs545808231	chr11:55197263-55197264	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs562314340	chr11:55197271-55197272	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs148119159	chr11:55197282-55197283	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs571683151	chr11:55197306-55197307	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs113393960	chr11:55197312-55197313	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs547724459	chr11:55197335-55197336	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs566420164	chr11:55197336-55197337	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs142160871	chr11:55198496-55198497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs144825255	chr11:55198505-55198506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557438292	chr11:55198509-55198510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575604440	chr11:55198511-55198512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113295749	chr11:55198533-55198534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs35790948	chr11:55198555-55198556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs557722736	chr11:55198572-55198573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs573239061	chr11:55198633-55198634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs540505656	chr11:55198646-55198647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4090717	chr11:55198664-55198665	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12295795	chr11:55198675-55198676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs61918237	chr11:55198693-55198694	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563398601	chr11:55198700-55198701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185897812	chr11:55198712-55198713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs190963874	chr11:55198715-55198716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs61918238	chr11:55198718-55198719	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528065595	chr11:55198726-55198727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546931995	chr11:55198767-55198768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs145158375	chr11:55198770-55198771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147610044	chr11:55198771-55198772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569375681	chr11:55198773-55198774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184008598	chr11:55198805-55198806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112544779	chr11:55198812-55198813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572920541	chr11:55198816-55198817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533997982	chr11:55198819-55198820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555647708	chr11:55198839-55198840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2113915	chr11:55198842-55198843	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369631423	chr11:55198848-55198849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55215800-55222400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55225400-55225800	Active TSS	HSMMtube	muscle
3	chr11:55225800-55227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:55227400-55227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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