Variant report

Variant	nsv5758
Chromosome Location	chr7:56637221-56705333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56684598-56685060	A549	lung:	n/a	n/a
2	CEBPB	chr7:56680850-56680963	A549	lung:	n/a	n/a
3	CEBPB	chr7:56685616-56685732	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:56679784-56680507	A549	lung:	n/a	n/a
5	CEBPB	chr7:56681418-56681611	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:56684756-56684982	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:56682969-56683345	A549	lung:	n/a	n/a
8	CEBPB	chr7:56679724-56680440	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:56679987-56680341	IMR90	lung:	n/a	n/a
10	CEBPB	chr7:56681433-56681665	A549	lung:	n/a	n/a
11	CEBPB	chr7:56684639-56685056	HepG2	liver:	n/a	n/a
12	CTCF	chr7:56674809-56674815	GM13976	blood:	n/a	n/a
13	CTCF	chr7:56668216-56668282	GM10248	blood:	n/a	n/a
14	CTCF	chr7:56694015-56694061	GM10248	blood:	n/a	n/a
15	CTCF	chr7:56702121-56702251	GM20000	blood:	n/a	n/a
16	CTCF	chr7:56673690-56673701	Fibrobl	skin:	n/a	n/a
17	CTCF	chr7:56695688-56695732	GM20000	blood:	n/a	n/a
18	CTCF	chr7:56674759-56674804	GM13976	blood:	n/a	n/a
19	E2F4	chr7:56687781-56687973	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr7:56686027-56686160	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr7:56652724-56653057	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:56646354-56646629	T-47D	breast:	n/a	n/a
23	FOXA1	chr7:56646397-56646580	T-47D	breast:	n/a	n/a
24	FOXA2	chr7:56652804-56653110	A549	lung:	n/a	n/a
25	FOXA2	chr7:56652677-56653293	A549	lung:	n/a	n/a
26	GATA3	chr7:56646343-56646611	T-47D	breast:	n/a	chr7:56646586-56646595
27	GATA3	chr7:56646202-56646667	MCF-7	breast:	n/a	chr7:56646586-56646595
28	GATA3	chr7:56646252-56646822	MCF-7	breast:	n/a	chr7:56646586-56646595
29	GATA3	chr7:56646288-56646660	T-47D	breast:	n/a	chr7:56646586-56646595
30	IRF1	chr7:56649888-56649954	K562	blood:	n/a	n/a
31	IRF1	chr7:56690350-56690384	K562	blood:	n/a	n/a
32	JUND	chr7:56663450-56663655	HepG2	liver:	n/a	chr7:56663584-56663593 chr7:56663583-56663594 chr7:56663586-56663593
33	JUND	chr7:56675523-56675637	HepG2	liver:	n/a	chr7:56675529-56675539 chr7:56675529-56675539 chr7:56675530-56675539 chr7:56675529-56675539 chr7:56675528-56675539 chr7:56675529-56675539
34	MAFF	chr7:56687694-56687879	HepG2	liver:	n/a	n/a
35	MAFF	chr7:56677706-56677968	K562	blood:	n/a	chr7:56677835-56677853
36	MAFF	chr7:56677677-56678015	HepG2	liver:	n/a	chr7:56677835-56677853
37	MAFK	chr7:56677799-56677996	Hela-S3	cervix:	n/a	chr7:56677837-56677852
38	MAFK	chr7:56677678-56678029	HepG2	liver:	n/a	chr7:56677837-56677852
39	MAFK	chr7:56687672-56687871	HepG2	liver:	n/a	n/a
40	MAFK	chr7:56677692-56677983	K562	blood:	n/a	chr7:56677837-56677852
41	MAFK	chr7:56677684-56678013	IMR90	lung:	n/a	chr7:56677837-56677852
42	MAFK	chr7:56700265-56700309	IMR90	lung:	n/a	n/a
43	MAFK	chr7:56677700-56678011	HepG2	liver:	n/a	chr7:56677837-56677852
44	MAFK	chr7:56637403-56637656	IMR90	lung:	n/a	n/a
45	MAFK	chr7:56687708-56687795	HepG2	liver:	n/a	n/a
46	MAFK	chr7:56637385-56637651	HepG2	liver:	n/a	n/a
47	MAX	chr7:56670928-56670959	NB4	blood:	n/a	chr7:56670935-56670951 chr7:56670931-56670941 chr7:56670933-56670940 chr7:56670932-56670943 chr7:56670931-56670944
48	MAZ	chr7:56638601-56638782	GM12878	blood:	n/a	n/a
49	MYC	chr7:56671030-56671112	H1-hESC	embryonic stem cell:	n/a	n/a
50	NR2F2	chr7:56646380-56646790	MCF-7	breast:	n/a	chr7:56646606-56646621

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56674159-56674209	HMEC	breast:	n/a
2	chr7:56674159-56674209	HMEC	breast:	n/a
3	chr7:56672774-56672824	GM12892	blood:	n/a
4	chr7:56673189-56673239	HNPCEpiC	eye:	n/a
5	chr7:56672831-56672881	HCT-116	colon:	n/a
6	chr7:56672831-56672881	GM06990	blood:	n/a
7	chr7:56673049-56673099	CMK	blood:	n/a
8	chr7:56674159-56674209	NH-A	brain:	n/a
9	chr7:56673189-56673239	LNCaP	prostate:	n/a
10	chr7:56673189-56673239	HCF	heart:	n/a
11	chr7:56671052-56671102	K562	blood:	n/a
12	chr7:56671052-56671102	AG09309	skin:	n/a
13	chr7:56672831-56672881	SK-N-MC	brain:	n/a
14	chr7:56672831-56672881	Jurkat	blood:	n/a
15	chr7:56674159-56674209	ovcar-3	ovarian:	n/a
16	chr7:56672774-56672824	PANC-1	pancreas:	n/a
17	chr7:56670372-56670422	RPTEC	kidney:	n/a
18	chr7:56670372-56670422	BE2_C	brain:	n/a
19	chr7:56673189-56673239	HepG2	liver:	n/a
20	chr7:56673189-56673239	HMEC	breast:	n/a
21	chr7:56673189-56673239	HCM	heart:	n/a
22	chr7:56673189-56673239	K562	blood:	n/a
23	chr7:56670372-56670422	CMK	blood:	n/a
24	chr7:56672774-56672824	HL-60	blood:	n/a
25	chr7:56673189-56673239	NHDF-neo	bronchial:	n/a
26	chr7:56670372-56670422	AoSMC	blood vessel:	n/a
27	chr7:56673189-56673239	MCF-7	breast:	n/a
28	chr7:56673189-56673239	HRPEpiC	eye:	n/a
29	chr7:56674159-56674209	IMR90	lung:	fetal
30	chr7:56673049-56673099	PFSK-1	brain:	n/a
31	chr7:56671052-56671102	PANC-1	pancreas:	n/a
32	chr7:56673189-56673239	PrEC	prostate:	n/a
33	chr7:56671052-56671102	MCF10A-Er-Src	breast:	n/a
34	chr7:56674159-56674209	ECC-1	luminal epithelium:	n/a
35	chr7:56673189-56673239	HCPEpiC	choroid plexus:	n/a
36	chr7:56673049-56673099	RPTEC	kidney:	n/a
37	chr7:56673189-56673239	AG09309	skin:	n/a
38	chr7:56673049-56673099	PANC-1	pancreas:	n/a
39	chr7:56671052-56671102	HEEpiC	esophagus:	n/a
40	chr7:56672831-56672881	K562	blood:	n/a
41	chr7:56672774-56672824	U87	brain:	n/a
42	chr7:56671052-56671102	GM19239	blood:	n/a
43	chr7:56673189-56673239	U87	brain:	n/a
44	chr7:56673189-56673239	GM19239	blood:	n/a
45	chr7:56670372-56670422	AG09319	gingival:	n/a
46	chr7:56673049-56673099	HCPEpiC	choroid plexus:	n/a
47	chr7:56672774-56672824	PrEC	prostate:	n/a
48	chr7:56673189-56673239	BE2_C	brain:	n/a
49	chr7:56674159-56674209	BJ	skin:	n/a
50	chr7:56673049-56673099	GM12891	blood:	n/a

No data

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-4	chr7:56682819-56683113	XLOC_006110
2	lnc-RP4-725G10.1.1-5	chr7:56683913-56683943	NONHSAT120776
3	lnc-ZNF479-7	chr7:56700124-56700420	NONHSAT120778
4	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
5	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
6	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	NONHSAT120776
7	lnc-RP4-725G10.1.1-5	chr7:56683916-56683960	XLOC_006459
8	lnc-SUMF2-4	chr7:56680291-56680415	XLOC_006110
9	lnc-RP4-725G10.1.1-5	chr7:56682719-56682895	NONHSAT120776
10	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
11	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
12	lnc-RP4-725G10.1.1-5	chr7:56684598-56685484	XLOC_006459
13	lnc-RP4-725G10.1.1-5	chr7:56684598-56684937	XLOC_006459
14	lnc-SUMF2-3	chr7:56680598-56681457	XLOC_006111
15	lnc-RP4-725G10.1.1-5	chr7:56685496-56685650	XLOC_006459
16	lnc-SUMF2-15	chr7:56645541-56645660	NONHSAT120770
17	lnc-ZNF479-7	chr7:56699432-56699828	NONHSAT120778
18	lnc-SUMF2-15	chr7:56646470-56646559	NONHSAT120770
19	lnc-SUMF2-3	chr7:56681640-56681804	XLOC_006111

No data

Variant related genes	Relation type
ENSG00000213067	TF binding region
ENSG00000234716	TF binding region
ENSG00000271047	TF binding region
ENSG00000213650	TF binding region
TRIM60P16	TF binding region
ENSG00000213067	CpG island
ENSG00000234716	CpG island
ENSG00000271047	CpG island
ENSG00000213650	CpG island
TRIM60P16	CpG island
MYO3B	miRNA target sites
TCP11L2	miRNA target sites
C5orf36	miRNA target sites

Extended variants
information (count: 764 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370325709	chr7:56637419-56637420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367782412	chr7:56637434-56637435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112802900	chr7:56637438-56637439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541197771	chr7:56637450-56637451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529063174	chr7:56637496-56637497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12535550	chr7:56637502-56637503	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs62461620	chr7:56637503-56637504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539726638	chr7:56637526-56637527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185199692	chr7:56637591-56637592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1105304	chr7:56641261-56641262	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561313926	chr7:56641287-56641288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192361464	chr7:56641334-56641335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183095316	chr7:56641363-56641364	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs572004157	chr7:56641380-56641381	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs1105305	chr7:56641385-56641386	ZNF genes & repeats	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550617780	chr7:56641410-56641411	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs568889609	chr7:56641414-56641415	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs145853252	chr7:56641419-56641420	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs554691682	chr7:56641433-56641434	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs1105306	chr7:56641477-56641478	ZNF genes & repeats	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533769520	chr7:56641514-56641515	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs149041470	chr7:56641518-56641519	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs576747171	chr7:56641528-56641529	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs544953110	chr7:56641533-56641534	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs556943906	chr7:56641543-56641544	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs3037065	chr7:56641655-56641656	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112544146	chr7:56641657-56641658	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs542750919	chr7:56641684-56641685	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561460485	chr7:56641693-56641694	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528661880	chr7:56641815-56641816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540844877	chr7:56641831-56641832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536184224	chr7:56641867-56641868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117668762	chr7:56641981-56641982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532858173	chr7:56641989-56641990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560852652	chr7:56641997-56641998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550555922	chr7:56642021-56642022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568751386	chr7:56642027-56642028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376413994	chr7:56642048-56642049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529744252	chr7:56642059-56642060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12532097	chr7:56642097-56642098	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs373411603	chr7:56642135-56642136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185096037	chr7:56642174-56642175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375871487	chr7:56642269-56642270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533707731	chr7:56642280-56642281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374111520	chr7:56642301-56642302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551953652	chr7:56642313-56642314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570369641	chr7:56642321-56642322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537737011	chr7:56642323-56642324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs556467997	chr7:56642334-56642335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189702769	chr7:56642345-56642346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56641200-56644400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:56645200-56645600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:56651200-56652400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:56663800-56665400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:56672800-56674200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:56672800-56674400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:56684800-56685600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:56684800-56685800	Active TSS	Fetal Heart	heart
9	chr7:56691000-56692800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:56702400-56708600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:56703400-56705200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:56703800-56706800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr7:56704000-56706800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:56704200-56705600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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