Variant report

Variant	nsv607103
Chromosome Location	chr7:57737409-57860759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:550)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:126 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr7:57766889-57767133	GM12878	blood:	n/a	n/a
2	BCL11A	chr7:57853868-57854123	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:57744314-57744572	IMR90	lung:	n/a	chr7:57744443-57744454
4	CEBPB	chr7:57829912-57829934	K562	blood:	n/a	n/a
5	CEBPB	chr7:57744365-57744514	K562	blood:	n/a	chr7:57744443-57744454
6	CEBPB	chr7:57744470-57744511	A549	lung:	n/a	n/a
7	CEBPB	chr7:57798444-57798645	HepG2	liver:	n/a	chr7:57798462-57798473
8	CEBPB	chr7:57744315-57744570	HepG2	liver:	n/a	chr7:57744443-57744454
9	CTCF	chr7:57760592-57760627	GM20000	blood:	n/a	n/a
10	CTCF	chr7:57829540-57829598	GM13976	blood:	n/a	n/a
11	CTCF	chr7:57790546-57790563	Lung_OC	lung:	n/a	n/a
12	CTCF	chr7:57768931-57769012	Fibrobl	skin:	n/a	n/a
13	CTCF	chr7:57791735-57791789	Lung_OC	lung:	n/a	n/a
14	CTCF	chr7:57841731-57841799	GM20000	blood:	n/a	n/a
15	CTCF	chr7:57754920-57755004	Medullo	brain:	n/a	n/a
16	CTCF	chr7:57810902-57810961	GM10248	blood:	n/a	n/a
17	CTCF	chr7:57831490-57831584	NHEK	skin:	n/a	n/a
18	CTCF	chr7:57831499-57831587	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:57809961-57810012	GM10248	blood:	n/a	n/a
20	CTCF	chr7:57820849-57820951	GM13976	blood:	n/a	n/a
21	CTCF	chr7:57831496-57831563	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:57811319-57811431	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr7:57853726-57853812	GM20000	blood:	n/a	n/a
24	CTCF	chr7:57808415-57808473	GM10248	blood:	n/a	n/a
25	CTCF	chr7:57821022-57821083	GM13977	blood:	n/a	n/a
26	CTCF	chr7:57823024-57823107	GM13976	blood:	n/a	n/a
27	CTCF	chr7:57830913-57830952	GM13976	blood:	n/a	n/a
28	CTCF	chr7:57808970-57809086	GM20000	blood:	n/a	n/a
29	CTCF	chr7:57831481-57831599	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:57828535-57828612	GM10266	blood:	n/a	n/a
31	CTCF	chr7:57824484-57824540	GM13976	blood:	n/a	n/a
32	CTCF	chr7:57790937-57790998	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr7:57768660-57768810	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:57821512-57821566	GM13976	blood:	n/a	n/a
35	CTCF	chr7:57760550-57760569	GM10266	blood:	n/a	n/a
36	CTCF	chr7:57790383-57790430	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr7:57831499-57831574	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:57831051-57831076	GM20000	blood:	n/a	n/a
39	E2F6	chr7:57829850-57829970	K562	blood:	n/a	n/a
40	EBF1	chr7:57748261-57748616	GM12878	blood:	n/a	n/a
41	EBF1	chr7:57827176-57827405	GM12878	blood:	n/a	n/a
42	EBF1	chr7:57748247-57748619	GM12878	blood:	n/a	n/a
43	EP300	chr7:57776352-57776373	K562	blood:	n/a	n/a
44	EP300	chr7:57768258-57768483	GM12878	blood:	n/a	n/a
45	EP300	chr7:57846494-57846646	GM12878	blood:	n/a	n/a
46	FOSL2	chr7:57766779-57767154	HepG2	liver:	n/a	n/a
47	GABPA	chr7:57766823-57767094	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr7:57808281-57808569	K562	blood:	n/a	n/a
49	GATA2	chr7:57776143-57776415	K562	blood:	n/a	n/a
50	GATA3	chr7:57768621-57768798	SH-SY5Y	brain:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57836911-57836961	Caco-2	colon:	n/a
2	chr7:57836911-57836961	Caco-2	colon:	n/a
3	chr7:57836911-57836961	SKMC	muscle:	n/a
4	chr7:57830625-57830675	ovcar-3	ovarian:	n/a
5	chr7:57836342-57836392	Hepatocyte	liver:	n/a
6	chr7:57836212-57836262	HRCEpiC	kidney:	n/a
7	chr7:57835813-57835863	LNCaP	prostate:	n/a
8	chr7:57836342-57836392	ovcar-3	ovarian:	n/a
9	chr7:57836212-57836262	HRE	kidney:	n/a
10	chr7:57829763-57829813	T-47D	breast:	n/a
11	chr7:57832834-57832884	HCPEpiC	choroid plexus:	n/a
12	chr7:57831919-57831969	Hepatocyte	liver:	n/a
13	chr7:57830625-57830675	GM12891	blood:	n/a
14	chr7:57836342-57836392	HCF	heart:	n/a
15	chr7:57836911-57836961	Hela-S3	cervix:	n/a
16	chr7:57831919-57831969	ECC-1	luminal epithelium:	n/a
17	chr7:57830625-57830675	A549	lung:	n/a
18	chr7:57832834-57832884	SK-N-SH_RA	brain:	n/a
19	chr7:57836212-57836262	RPTEC	kidney:	n/a
20	chr7:57829763-57829813	NH-A	brain:	n/a
21	chr7:57836212-57836262	SK-N-MC	brain:	n/a
22	chr7:57836342-57836392	SK-N-MC	brain:	n/a
23	chr7:57836911-57836961	HRCEpiC	kidney:	n/a
24	chr7:57830004-57830054	HCT-116	colon:	n/a
25	chr7:57829763-57829813	SKMC	muscle:	n/a
26	chr7:57836212-57836262	Hepatocyte	liver:	n/a
27	chr7:57836212-57836262	GM12892	blood:	n/a
28	chr7:57830004-57830054	ProgFib	skin:	n/a
29	chr7:57829763-57829813	GM06990	blood:	n/a
30	chr7:57836212-57836262	AG09319	gingival:	n/a
31	chr7:57830004-57830054	GM12878	blood:	n/a
32	chr7:57831919-57831969	LNCaP	prostate:	n/a
33	chr7:57830004-57830054	SK-N-MC	brain:	n/a
34	chr7:57836911-57836961	AoSMC	blood vessel:	n/a
35	chr7:57830004-57830054	HMEC	breast:	n/a
36	chr7:57836212-57836262	A549	lung:	n/a
37	chr7:57836342-57836392	LNCaP	prostate:	n/a
38	chr7:57836911-57836961	PANC-1	pancreas:	n/a
39	chr7:57830625-57830675	GM06990	blood:	n/a
40	chr7:57830625-57830675	SK-N-MC	brain:	n/a
41	chr7:57829763-57829813	HEK293	kidney:	embryo
42	chr7:57830004-57830054	GM06990	blood:	n/a
43	chr7:57830004-57830054	AG04450	lung:	fetal
44	chr7:57832834-57832884	MCF-7	breast:	n/a
45	chr7:57831919-57831969	RPTEC	kidney:	n/a
46	chr7:57835813-57835863	HRCEpiC	kidney:	n/a
47	chr7:57831919-57831969	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:57832834-57832884	HepG2	liver:	n/a
49	chr7:57836342-57836392	RPTEC	kidney:	n/a
50	chr7:57832834-57832884	SAEC	small airway:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-11	chr7:57830325-57830652	NONHSAT120868
2	lnc-ZNF716-21	chr7:57830672-57830879	NONHSAT120869

No data

Variant related genes	Relation type
ENSG00000227015	TF binding region
ENSG00000224484	TF binding region
ENSG00000230271	TF binding region
ENSG00000232161	TF binding region
ENSG00000250923	TF binding region
ENSG00000227015	CpG island
ENSG00000224484	CpG island
ENSG00000230271	CpG island
ENSG00000232161	CpG island
ENSG00000250923	CpG island

Extended variants
information (count: 661 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:661 , 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	rs138424089	chr7:57739001-57739002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543339596	chr7:57739032-57739033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76554846	chr7:57739036-57739037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73360956	chr7:57739038-57739039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73360957	chr7:57739055-57739056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62451416	chr7:57739081-57739082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200346866	chr7:57739104-57739105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs200957209	chr7:57739115-57739116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7794925	chr7:57739133-57739134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62451417	chr7:57739134-57739135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79421139	chr7:57739149-57739150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371238311	chr7:57739151-57739152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112645423	chr7:57739194-57739195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529095754	chr7:57739202-57739203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373497435	chr7:57739220-57739221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200433576	chr7:57739226-57739227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77807753	chr7:57739231-57739232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62451418	chr7:57739249-57739250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112048612	chr7:57739263-57739264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150622504	chr7:57739274-57739275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541178292	chr7:57739293-57739294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62451419	chr7:57739298-57739299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201690015	chr7:57739307-57739308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199729582	chr7:57739308-57739309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112320757	chr7:57739311-57739312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559594653	chr7:57739312-57739313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370846599	chr7:57739324-57739325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs58345259	chr7:57739335-57739336	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77949837	chr7:57739338-57739339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34649748	chr7:57739347-57739348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73696681	chr7:57739351-57739352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73696682	chr7:57739370-57739371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552660886	chr7:57739386-57739387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73696683	chr7:57739392-57739393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570735291	chr7:57739395-57739396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73115666	chr7:57739410-57739411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182293824	chr7:57739422-57739423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550196408	chr7:57739423-57739424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568368896	chr7:57739424-57739425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73115668	chr7:57739427-57739428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73360960	chr7:57739430-57739431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535756410	chr7:57739458-57739459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78882133	chr7:57739467-57739468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77100395	chr7:57739468-57739469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111427009	chr7:57739516-57739517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113430434	chr7:57739518-57739519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113261621	chr7:57739538-57739539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376726071	chr7:57739569-57739570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73360961	chr7:57739577-57739578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs56670836	chr7:57739588-57739589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57739000-57739400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:57739400-57739600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:57739600-57741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:57741800-57742000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:57812600-57813400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:57823800-57824000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:57828600-57834800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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