Variant report

Variant	nsv818507
Chromosome Location	chr7:57789531-57886384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:916)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr7:57882040-57882219	GM12878	blood:	n/a	n/a
2	BCL11A	chr7:57853868-57854123	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:57829912-57829934	K562	blood:	n/a	n/a
4	CEBPB	chr7:57798444-57798645	HepG2	liver:	n/a	chr7:57798462-57798473
5	CEBPB	chr7:57880837-57881082	K562	blood:	n/a	n/a
6	CEBPB	chr7:57863811-57864008	A549	lung:	n/a	chr7:57863882-57863893 chr7:57863882-57863893 chr7:57863882-57863895 chr7:57863882-57863895
7	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
8	CTCF	chr7:57821512-57821566	GM13976	blood:	n/a	n/a
9	CTCF	chr7:57841731-57841799	GM20000	blood:	n/a	n/a
10	CTCF	chr7:57869151-57869216	GM10248	blood:	n/a	n/a
11	CTCF	chr7:57790546-57790563	Lung_OC	lung:	n/a	n/a
12	CTCF	chr7:57809961-57810012	GM10248	blood:	n/a	n/a
13	CTCF	chr7:57876276-57876373	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:57831496-57831563	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:57879165-57879360	K562	blood:	n/a	n/a
16	CTCF	chr7:57790937-57790998	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr7:57808970-57809086	GM20000	blood:	n/a	n/a
18	CTCF	chr7:57823024-57823107	GM13976	blood:	n/a	n/a
19	CTCF	chr7:57820849-57820951	GM13976	blood:	n/a	n/a
20	CTCF	chr7:57876592-57876671	GM10248	blood:	n/a	n/a
21	CTCF	chr7:57871656-57871687	GM13976	blood:	n/a	n/a
22	CTCF	chr7:57828535-57828612	GM10266	blood:	n/a	n/a
23	CTCF	chr7:57810902-57810961	GM10248	blood:	n/a	n/a
24	CTCF	chr7:57808415-57808473	GM10248	blood:	n/a	n/a
25	CTCF	chr7:57831499-57831587	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:57790383-57790430	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr7:57831481-57831599	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:57824484-57824540	GM13976	blood:	n/a	n/a
29	CTCF	chr7:57821022-57821083	GM13977	blood:	n/a	n/a
30	CTCF	chr7:57830913-57830952	GM13976	blood:	n/a	n/a
31	CTCF	chr7:57853726-57853812	GM20000	blood:	n/a	n/a
32	CTCF	chr7:57831499-57831574	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:57829540-57829598	GM13976	blood:	n/a	n/a
34	CTCF	chr7:57831051-57831076	GM20000	blood:	n/a	n/a
35	CTCF	chr7:57831490-57831584	NHEK	skin:	n/a	n/a
36	CTCF	chr7:57811319-57811431	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr7:57791735-57791789	Lung_OC	lung:	n/a	n/a
38	E2F6	chr7:57829850-57829970	K562	blood:	n/a	n/a
39	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
40	EBF1	chr7:57827176-57827405	GM12878	blood:	n/a	n/a
41	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
42	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
43	EP300	chr7:57846494-57846646	GM12878	blood:	n/a	n/a
44	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
45	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
46	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
47	FOSL2	chr7:57881715-57882320	HepG2	liver:	n/a	n/a
48	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
49	FOXA2	chr7:57871008-57871371	A549	lung:	n/a	n/a
50	GABPA	chr7:57860796-57860991	Hela-S3	cervix:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57878893-57878943	NB4	blood:	n/a
2	chr7:57878893-57878943	NB4	blood:	n/a
3	chr7:57878777-57878827	HCT-116	colon:	n/a
4	chr7:57831919-57831969	GM12891	blood:	n/a
5	chr7:57880009-57880059	PANC-1	pancreas:	n/a
6	chr7:57830004-57830054	NH-A	brain:	n/a
7	chr7:57878945-57878995	HepG2	liver:	n/a
8	chr7:57829763-57829813	GM12892	blood:	n/a
9	chr7:57831919-57831969	HCT-116	colon:	n/a
10	chr7:57836911-57836961	HCPEpiC	choroid plexus:	n/a
11	chr7:57878945-57878995	Jurkat	blood:	n/a
12	chr7:57878777-57878827	NHDF-neo	bronchial:	n/a
13	chr7:57836212-57836262	AG09319	gingival:	n/a
14	chr7:57831919-57831969	HCPEpiC	choroid plexus:	n/a
15	chr7:57878945-57878995	HMEC	breast:	n/a
16	chr7:57881130-57881180	H1-hESC	embryonic stem cell:	embryo
17	chr7:57836212-57836262	HCM	heart:	n/a
18	chr7:57881100-57881150	HepG2	liver:	n/a
19	chr7:57836911-57836961	Jurkat	blood:	n/a
20	chr7:57878777-57878827	A549	lung:	n/a
21	chr7:57831919-57831969	HepG2	liver:	n/a
22	chr7:57881100-57881150	Hela-S3	cervix:	n/a
23	chr7:57835813-57835863	ECC-1	luminal epithelium:	n/a
24	chr7:57836212-57836262	HIPEpiC	eye:	n/a
25	chr7:57832834-57832884	SKMC	muscle:	n/a
26	chr7:57836212-57836262	RPTEC	kidney:	n/a
27	chr7:57835813-57835863	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:57835813-57835863	NB4	blood:	n/a
29	chr7:57881130-57881180	HL-60	blood:	n/a
30	chr7:57835813-57835863	MCF10A-Er-Src	breast:	n/a
31	chr7:57881100-57881150	HEK293	kidney:	embryo
32	chr7:57881100-57881150	NHBE	bronchial:	n/a
33	chr7:57836911-57836961	HNPCEpiC	eye:	n/a
34	chr7:57836342-57836392	GM12891	blood:	n/a
35	chr7:57831919-57831969	SK-N-SH_RA	brain:	n/a
36	chr7:57881100-57881150	Caco-2	colon:	n/a
37	chr7:57830004-57830054	SKMC	muscle:	n/a
38	chr7:57878945-57878995	HCT-116	colon:	n/a
39	chr7:57832834-57832884	SK-N-SH_RA	brain:	n/a
40	chr7:57829763-57829813	GM12878	blood:	n/a
41	chr7:57835813-57835863	Caco-2	colon:	n/a
42	chr7:57830625-57830675	HCF	heart:	n/a
43	chr7:57829763-57829813	HL-60	blood:	n/a
44	chr7:57831919-57831969	HL-60	blood:	n/a
45	chr7:57830004-57830054	LNCaP	prostate:	n/a
46	chr7:57830004-57830054	NB4	blood:	n/a
47	chr7:57830004-57830054	Caco-2	colon:	n/a
48	chr7:57835813-57835863	NHBE	bronchial:	n/a
49	chr7:57878893-57878943	RPTEC	kidney:	n/a
50	chr7:57829763-57829813	HAEpiC	amniotic membrane:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-15	chr7:57879738-57880116	NONHSAT120878
2	lnc-ZNF479-16	chr7:57882150-57882506	NONHSAT120880
3	lnc-ZNF479-11	chr7:57830325-57830652	NONHSAT120868
4	lnc-ZNF716-21	chr7:57830672-57830879	NONHSAT120869
5	lnc-ZNF479-14	chr7:57877307-57877718	NONHSAT120873

No data

Variant related genes	Relation type
ENSG00000224653	TF binding region
ENSG00000227015	TF binding region
ENSG00000224484	TF binding region
ENSG00000231484	TF binding region
ENSG00000230271	TF binding region
ENSG00000231232	TF binding region
ENSG00000237236	TF binding region
ENSG00000236907	TF binding region
ENSG00000232161	TF binding region
ENSG00000250923	TF binding region
ENSG00000250618	TF binding region
ENSG00000223836	TF binding region
ENSG00000224653	CpG island
ENSG00000227015	CpG island
ENSG00000224484	CpG island
ENSG00000231484	CpG island
ENSG00000230271	CpG island
ENSG00000231232	CpG island
ENSG00000237236	CpG island
ENSG00000236907	CpG island
ENSG00000232161	CpG island
ENSG00000250923	CpG island
ENSG00000250618	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 1091 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186362309	chr7:57812600-57812601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146865432	chr7:57812628-57812629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575258338	chr7:57812676-57812677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573757090	chr7:57812679-57812680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542677082	chr7:57812683-57812684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542532346	chr7:57812690-57812691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191688743	chr7:57812713-57812714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527858636	chr7:57812761-57812762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377570743	chr7:57812828-57812829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183468128	chr7:57812833-57812834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188074413	chr7:57812842-57812843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531340635	chr7:57812901-57812902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549555420	chr7:57812969-57812970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370472422	chr7:57812974-57812975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568035924	chr7:57813005-57813006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs377456696	chr7:57813008-57813009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543228398	chr7:57813038-57813039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191168559	chr7:57813064-57813065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547270526	chr7:57813079-57813080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565562213	chr7:57813080-57813081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539215591	chr7:57813142-57813143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73601741	chr7:57813172-57813173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559022658	chr7:57813177-57813178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182809862	chr7:57813188-57813189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561504254	chr7:57813190-57813191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368079448	chr7:57813221-57813222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111437993	chr7:57813239-57813240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538334021	chr7:57813240-57813241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111948793	chr7:57813248-57813249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186723879	chr7:57813252-57813253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191530113	chr7:57813253-57813254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183277957	chr7:57813281-57813282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560731711	chr7:57813318-57813319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572687712	chr7:57813397-57813398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34342724	chr7:57823866-57823867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575596995	chr7:57823876-57823877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543321634	chr7:57823879-57823880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116189392	chr7:57823920-57823921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529170831	chr7:57823936-57823937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547611417	chr7:57823977-57823978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540342078	chr7:57827210-57827211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs565014705	chr7:57827211-57827212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs1842989	chr7:57827222-57827223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550623919	chr7:57827232-57827233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs183594985	chr7:57827300-57827301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547989209	chr7:57827328-57827329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566877955	chr7:57827345-57827346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs189316481	chr7:57827357-57827358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570631384	chr7:57827403-57827404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182297841	chr7:57827422-57827423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57812600-57813400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:57823800-57824000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:57828600-57834800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:57877600-57883400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:57878000-57880000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:57879400-57879600	Enhancers	K562	blood
7	chr7:57879400-57881000	ZNF genes & repeats	Gastric	stomach
8	chr7:57879600-57880800	Weak transcription	K562	blood
9	chr7:57880400-57881400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:57880800-57881200	Enhancers	K562	blood
11	chr7:57880800-57881400	ZNF genes & repeats	Spleen	Spleen
12	chr7:57881200-57881600	Active TSS	K562	blood
13	chr7:57885400-57885800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:57885400-57886600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:57885400-57886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:57885400-57886800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr7:57885800-57886800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr7:57886000-57886400	ZNF genes & repeats	Esophagus	oesophagus
19	chr7:57886000-57886400	ZNF genes & repeats	Pancreas	Pancrea
20	chr7:57886000-57886600	ZNF genes & repeats	Gastric	stomach
21	chr7:57886000-57886800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:57886200-57886800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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