Variant report

Variant	nsv888067
Chromosome Location	chr7:56668557-56727887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56685616-56685732	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:56713178-56713213	HepG2	liver:	n/a	chr7:56713195-56713206
3	CEBPB	chr7:56713047-56713333	IMR90	lung:	n/a	chr7:56713195-56713206
4	CEBPB	chr7:56684598-56685060	A549	lung:	n/a	n/a
5	CEBPB	chr7:56681433-56681665	A549	lung:	n/a	n/a
6	CEBPB	chr7:56713090-56713282	A549	lung:	n/a	chr7:56713195-56713206
7	CEBPB	chr7:56684756-56684982	IMR90	lung:	n/a	n/a
8	CEBPB	chr7:56679784-56680507	A549	lung:	n/a	n/a
9	CEBPB	chr7:56679724-56680440	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:56682969-56683345	A549	lung:	n/a	n/a
11	CEBPB	chr7:56680850-56680963	A549	lung:	n/a	n/a
12	CEBPB	chr7:56681418-56681611	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:56684639-56685056	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:56679987-56680341	IMR90	lung:	n/a	n/a
15	CTCF	chr7:56702121-56702251	GM20000	blood:	n/a	n/a
16	CTCF	chr7:56674759-56674804	GM13976	blood:	n/a	n/a
17	CTCF	chr7:56674809-56674815	GM13976	blood:	n/a	n/a
18	CTCF	chr7:56718813-56718857	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr7:56712000-56712150	Caco-2	colon:	n/a	n/a
20	CTCF	chr7:56673690-56673701	Fibrobl	skin:	n/a	n/a
21	CTCF	chr7:56721582-56721628	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:56694015-56694061	GM10248	blood:	n/a	n/a
23	CTCF	chr7:56695688-56695732	GM20000	blood:	n/a	n/a
24	CTCF	chr7:56723471-56723522	GM13976	blood:	n/a	n/a
25	E2F4	chr7:56687781-56687973	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr7:56686027-56686160	MCF10A-Er-Src	breast:	n/a	n/a
27	IRF1	chr7:56690350-56690384	K562	blood:	n/a	n/a
28	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
29	KAP1	chr7:56706809-56707384	K562	blood:	n/a	n/a
30	MAFF	chr7:56687694-56687879	HepG2	liver:	n/a	n/a
31	MAFF	chr7:56677706-56677968	K562	blood:	n/a	chr7:56677835-56677853
32	MAFF	chr7:56677677-56678015	HepG2	liver:	n/a	chr7:56677835-56677853
33	MAFK	chr7:56677692-56677983	K562	blood:	n/a	chr7:56677837-56677852
34	MAFK	chr7:56706024-56706319	HepG2	liver:	n/a	n/a
35	MAFK	chr7:56687672-56687871	HepG2	liver:	n/a	n/a
36	MAFK	chr7:56677700-56678011	HepG2	liver:	n/a	chr7:56677837-56677852
37	MAFK	chr7:56677678-56678029	HepG2	liver:	n/a	chr7:56677837-56677852
38	MAFK	chr7:56700265-56700309	IMR90	lung:	n/a	n/a
39	MAFK	chr7:56687708-56687795	HepG2	liver:	n/a	n/a
40	MAFK	chr7:56677799-56677996	Hela-S3	cervix:	n/a	chr7:56677837-56677852
41	MAFK	chr7:56677684-56678013	IMR90	lung:	n/a	chr7:56677837-56677852
42	MAFK	chr7:56707082-56707085	HepG2	liver:	n/a	n/a
43	MAX	chr7:56670928-56670959	NB4	blood:	n/a	chr7:56670935-56670951 chr7:56670931-56670941 chr7:56670933-56670940 chr7:56670932-56670943 chr7:56670931-56670944
44	MYC	chr7:56671030-56671112	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFYA	chr7:56712178-56712378	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:56672317-56672407	Gliobla	brain:	n/a	n/a
47	POLR2A	chr7:56709865-56709887	A549	lung:	n/a	n/a
48	POLR2A	chr7:56696054-56696275	K562	blood:	n/a	n/a
49	POLR2A	chr7:56709956-56709967	A549	lung:	n/a	n/a
50	POLR2A	chr7:56688340-56688383	GM12878	blood:	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	chr7:56674159-56674209	H1-hESC	embryonic stem cell:	embryo
2	chr7:56674159-56674209	H1-hESC	embryonic stem cell:	embryo
3	chr7:56671052-56671102	H1-hESC	embryonic stem cell:	embryo
4	chr7:56672774-56672824	SAEC	small airway:	n/a
5	chr7:56673189-56673239	HNPCEpiC	eye:	n/a
6	chr7:56672831-56672881	GM12891	blood:	n/a
7	chr7:56672774-56672824	PANC-1	pancreas:	n/a
8	chr7:56672831-56672881	AG09309	skin:	n/a
9	chr7:56673189-56673239	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:56671052-56671102	T-47D	breast:	n/a
11	chr7:56670372-56670422	HL-60	blood:	n/a
12	chr7:56671052-56671102	Hela-S3	cervix:	n/a
13	chr7:56674159-56674209	PrEC	prostate:	n/a
14	chr7:56672831-56672881	LNCaP	prostate:	n/a
15	chr7:56674159-56674209	HEEpiC	esophagus:	n/a
16	chr7:56672831-56672881	HCF	heart:	n/a
17	chr7:56673189-56673239	A549	lung:	n/a
18	chr7:56672831-56672881	CMK	blood:	n/a
19	chr7:56671052-56671102	AG04449	skin:	fetal
20	chr7:56673049-56673099	HRE	kidney:	n/a
21	chr7:56673189-56673239	PFSK-1	brain:	n/a
22	chr7:56672831-56672881	HNPCEpiC	eye:	n/a
23	chr7:56673189-56673239	MCF10A-Er-Src	breast:	n/a
24	chr7:56673189-56673239	ProgFib	skin:	n/a
25	chr7:56672774-56672824	ECC-1	luminal epithelium:	n/a
26	chr7:56670372-56670422	NB4	blood:	n/a
27	chr7:56672774-56672824	NT2-D1	testis:	n/a
28	chr7:56673049-56673099	LNCaP	prostate:	n/a
29	chr7:56673189-56673239	HepG2	liver:	n/a
30	chr7:56673189-56673239	NT2-D1	testis:	n/a
31	chr7:56672831-56672881	HEK293	kidney:	embryo
32	chr7:56671052-56671102	A549	lung:	n/a
33	chr7:56673189-56673239	BJ	skin:	n/a
34	chr7:56673049-56673099	BJ	skin:	n/a
35	chr7:56673049-56673099	HMEC	breast:	n/a
36	chr7:56673189-56673239	HRPEpiC	eye:	n/a
37	chr7:56673189-56673239	SK-N-SH_RA	brain:	n/a
38	chr7:56673049-56673099	NHDF-neo	bronchial:	n/a
39	chr7:56673049-56673099	HCPEpiC	choroid plexus:	n/a
40	chr7:56672774-56672824	SK-N-SH	brain:	n/a
41	chr7:56673049-56673099	NH-A	brain:	n/a
42	chr7:56673049-56673099	HAEpiC	amniotic membrane:	n/a
43	chr7:56670372-56670422	AoSMC	blood vessel:	n/a
44	chr7:56670372-56670422	BJ	skin:	n/a
45	chr7:56670372-56670422	GM19239	blood:	n/a
46	chr7:56673189-56673239	SK-N-MC	brain:	n/a
47	chr7:56673189-56673239	T-47D	breast:	n/a
48	chr7:56672774-56672824	GM12891	blood:	n/a
49	chr7:56673049-56673099	AoSMC	blood vessel:	n/a
50	chr7:56672831-56672881	NB4	blood:	n/a

No data

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	NONHSAT120776
2	lnc-RP4-725G10.1.1-5	chr7:56682719-56682895	NONHSAT120776
3	lnc-RP4-725G10.1.1-5	chr7:56685496-56685650	XLOC_006459
4	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
5	lnc-SUMF2-4	chr7:56682819-56683113	XLOC_006110
6	lnc-SUMF2-5	chr7:56727476-56727504	NONHSAT120781
7	lnc-SUMF2-5	chr7:56726844-56727044	XLOC_006112
8	lnc-ZNF479-6	chr7:56717672-56717767	NONHSAT120779
9	lnc-SUMF2-5	chr7:56727156-56727330	XLOC_006112
10	lnc-ZNF479-7	chr7:56699432-56699828	NONHSAT120778
11	lnc-RP4-725G10.1.1-5	chr7:56683913-56683943	NONHSAT120776
12	lnc-RP4-725G10.1.1-5	chr7:56684598-56685484	XLOC_006459
13	lnc-SUMF2-3	chr7:56681640-56681804	XLOC_006111
14	lnc-ZNF479-7	chr7:56700124-56700420	NONHSAT120778
15	lnc-ZNF479-6	chr7:56718265-56718389	NONHSAT120779
16	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
17	lnc-RP4-725G10.1.1-5	chr7:56684598-56684937	XLOC_006459
18	lnc-SUMF2-5	chr7:56727155-56727330	NONHSAT120781
19	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
20	lnc-RP4-725G10.1.1-5	chr7:56683916-56683960	XLOC_006459
21	lnc-SUMF2-5	chr7:56727477-56727504	XLOC_006112
22	lnc-ZNF479-6	chr7:56706636-56708005	NONHSAT120779
23	lnc-SUMF2-3	chr7:56680598-56681457	XLOC_006111
24	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
25	lnc-SUMF2-4	chr7:56680291-56680415	XLOC_006110
26	lnc-SUMF2-5	chr7:56726843-56727044	NONHSAT120781

No data

Variant related genes	Relation type
ENSG00000228303	TF binding region
ENSG00000271047	TF binding region
TRIM60P16	TF binding region
ENSG00000228303	CpG island
ENSG00000271047	CpG island
TRIM60P16	CpG island
TCP11L2	miRNA target sites
C5orf36	miRNA target sites
MYO3B	miRNA target sites

Extended variants
information (count: 690 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:690 , 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	rs376534209	chr7:56670372-56670373	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs563270500	chr7:56670373-56670374	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs185100853	chr7:56670399-56670400	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs117162144	chr7:56670938-56670939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113668237	chr7:56671085-56671086	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs11538320	chr7:56671091-56671092	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs11538325	chr7:56671100-56671101	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs569314150	chr7:56672851-56672852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs66682954	chr7:56672862-56672863	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs372733573	chr7:56672885-56672886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10236294	chr7:56672910-56672911	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4377917	chr7:56672928-56672929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569105219	chr7:56672935-56672936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534252513	chr7:56672938-56672939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112027103	chr7:56672946-56672947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10236389	chr7:56672964-56672965	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537534489	chr7:56672999-56673000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556232697	chr7:56673026-56673027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574500449	chr7:56673030-56673031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535654345	chr7:56673042-56673043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78956653	chr7:56673101-56673102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572350437	chr7:56673104-56673105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183356095	chr7:56673123-56673124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565272512	chr7:56673132-56673133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187738636	chr7:56673148-56673149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372036255	chr7:56673155-56673156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192655625	chr7:56673190-56673191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10236669	chr7:56673202-56673203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113334291	chr7:56673221-56673222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548745878	chr7:56673228-56673229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184878983	chr7:56673245-56673246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10265267	chr7:56673330-56673331	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111800341	chr7:56673338-56673339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs146601616	chr7:56673396-56673397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10236916	chr7:56673399-56673400	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549582194	chr7:56673474-56673475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568132606	chr7:56673476-56673477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs10252218	chr7:56673477-56673478	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188341007	chr7:56673493-56673494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs191532784	chr7:56673495-56673496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs10237127	chr7:56673534-56673535	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10265619	chr7:56673538-56673539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4948155	chr7:56673563-56673564	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111508727	chr7:56673606-56673607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs6976371	chr7:56673609-56673610	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557326141	chr7:56673624-56673625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562774030	chr7:56673640-56673641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534135992	chr7:56673722-56673723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149223040	chr7:56673761-56673762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184376078	chr7:56673769-56673770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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	chr7:56672800-56674200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:56672800-56674400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56684800-56685600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:56684800-56685800	Active TSS	Fetal Heart	heart
5	chr7:56691000-56692800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:56702400-56708600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:56703400-56705200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr7:56703800-56706800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:56704000-56706800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:56704200-56705600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr7:56705400-56708000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:56706800-56708000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr7:56707200-56708800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr7:56723000-56723200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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