Variant report

Variant	nsv1025944
Chromosome Location	chr7:57829001-57924987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:1099)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57924008-57924207	GM12878	blood:	n/a	chr7:57924188-57924197
2	BCL11A	chr7:57882040-57882219	GM12878	blood:	n/a	n/a
3	BCL11A	chr7:57918662-57918918	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:57853868-57854123	GM12878	blood:	n/a	n/a
5	CEBPB	chr7:57863811-57864008	A549	lung:	n/a	chr7:57863882-57863893 chr7:57863882-57863893 chr7:57863882-57863895 chr7:57863882-57863895
6	CEBPB	chr7:57880837-57881082	K562	blood:	n/a	n/a
7	CEBPB	chr7:57829912-57829934	K562	blood:	n/a	n/a
8	CTCF	chr7:57879165-57879360	K562	blood:	n/a	n/a
9	CTCF	chr7:57831496-57831563	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:57869151-57869216	GM10248	blood:	n/a	n/a
11	CTCF	chr7:57886700-57886850	NHLF	lung:	n/a	n/a
12	CTCF	chr7:57871656-57871687	GM13976	blood:	n/a	n/a
13	CTCF	chr7:57918180-57918330	BE2_C	brain:	n/a	n/a
14	CTCF	chr7:57831481-57831599	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
16	CTCF	chr7:57831499-57831587	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:57912953-57913042	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:57831490-57831584	NHEK	skin:	n/a	n/a
19	CTCF	chr7:57894413-57894427	Medullo	brain:	n/a	n/a
20	CTCF	chr7:57876276-57876373	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:57830913-57830952	GM13976	blood:	n/a	n/a
22	CTCF	chr7:57915620-57915770	AG10803	skin:	n/a	n/a
23	CTCF	chr7:57831499-57831574	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:57829540-57829598	GM13976	blood:	n/a	n/a
25	CTCF	chr7:57918140-57918290	AG10803	skin:	n/a	n/a
26	CTCF	chr7:57853726-57853812	GM20000	blood:	n/a	n/a
27	CTCF	chr7:57841731-57841799	GM20000	blood:	n/a	n/a
28	CTCF	chr7:57831051-57831076	GM20000	blood:	n/a	n/a
29	CTCF	chr7:57876592-57876671	GM10248	blood:	n/a	n/a
30	E2F6	chr7:57829850-57829970	K562	blood:	n/a	n/a
31	EBF1	chr7:57923928-57924208	GM12878	blood:	n/a	n/a
32	EBF1	chr7:57918238-57918417	GM12878	blood:	n/a	n/a
33	EBF1	chr7:57921936-57922183	GM12878	blood:	n/a	n/a
34	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
35	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
36	EP300	chr7:57918264-57918460	GM12878	blood:	n/a	n/a
37	EP300	chr7:57921761-57922256	GM12878	blood:	n/a	chr7:57922008-57922016
38	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
39	EP300	chr7:57914896-57915088	GM12878	blood:	n/a	n/a
40	EP300	chr7:57923853-57924265	GM12878	blood:	n/a	n/a
41	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
42	EP300	chr7:57918253-57918410	GM12878	blood:	n/a	n/a
43	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
44	EP300	chr7:57914870-57915093	GM12878	blood:	n/a	n/a
45	EP300	chr7:57921272-57921491	GM12878	blood:	n/a	n/a
46	EP300	chr7:57846494-57846646	GM12878	blood:	n/a	n/a
47	FOSL2	chr7:57900673-57901027	HepG2	liver:	n/a	n/a
48	FOSL2	chr7:57899633-57899890	HepG2	liver:	n/a	n/a
49	FOSL2	chr7:57914872-57915090	HepG2	liver:	n/a	n/a
50	FOSL2	chr7:57889953-57890257	HepG2	liver:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57836342-57836392	GM12891	blood:	n/a
2	chr7:57836342-57836392	GM12891	blood:	n/a
3	chr7:57924074-57924124	A549	lung:	n/a
4	chr7:57835813-57835863	HCF	heart:	n/a
5	chr7:57829763-57829813	SK-N-SH_RA	brain:	n/a
6	chr7:57836212-57836262	MCF10A-Er-Src	breast:	n/a
7	chr7:57829763-57829813	HRCEpiC	kidney:	n/a
8	chr7:57832834-57832884	HEK293	kidney:	embryo
9	chr7:57895070-57895120	PANC-1	pancreas:	n/a
10	chr7:57830004-57830054	HNPCEpiC	eye:	n/a
11	chr7:57881100-57881150	HL-60	blood:	n/a
12	chr7:57895070-57895120	NHDF-neo	bronchial:	n/a
13	chr7:57836212-57836262	MCF-7	breast:	n/a
14	chr7:57878777-57878827	HAEpiC	amniotic membrane:	n/a
15	chr7:57831919-57831969	RPTEC	kidney:	n/a
16	chr7:57880009-57880059	GM19239	blood:	n/a
17	chr7:57830004-57830054	T-47D	breast:	n/a
18	chr7:57878777-57878827	K562	blood:	n/a
19	chr7:57836212-57836262	PFSK-1	brain:	n/a
20	chr7:57832834-57832884	HEEpiC	esophagus:	n/a
21	chr7:57829763-57829813	SAEC	small airway:	n/a
22	chr7:57895070-57895120	HEK293	kidney:	embryo
23	chr7:57878777-57878827	Jurkat	blood:	n/a
24	chr7:57881130-57881180	BE2_C	brain:	n/a
25	chr7:57924074-57924124	HNPCEpiC	eye:	n/a
26	chr7:57830004-57830054	SKMC	muscle:	n/a
27	chr7:57836212-57836262	Hepatocyte	liver:	n/a
28	chr7:57896675-57896725	NH-A	brain:	n/a
29	chr7:57895070-57895120	ProgFib	skin:	n/a
30	chr7:57880009-57880059	PFSK-1	brain:	n/a
31	chr7:57831919-57831969	Hela-S3	cervix:	n/a
32	chr7:57829763-57829813	AG09319	gingival:	n/a
33	chr7:57895070-57895120	AG04450	lung:	fetal
34	chr7:57836342-57836392	HIPEpiC	eye:	n/a
35	chr7:57878777-57878827	HUVEC	blood vessel:	n/a
36	chr7:57830004-57830054	ECC-1	luminal epithelium:	n/a
37	chr7:57878945-57878995	RPTEC	kidney:	n/a
38	chr7:57878945-57878995	MCF10A-Er-Src	breast:	n/a
39	chr7:57830004-57830054	Hela-S3	cervix:	n/a
40	chr7:57881130-57881180	HRCEpiC	kidney:	n/a
41	chr7:57831919-57831969	GM12891	blood:	n/a
42	chr7:57830004-57830054	RPTEC	kidney:	n/a
43	chr7:57878893-57878943	MCF-7	breast:	n/a
44	chr7:57830625-57830675	HNPCEpiC	eye:	n/a
45	chr7:57836212-57836262	GM06990	blood:	n/a
46	chr7:57881100-57881150	MCF10A-Er-Src	breast:	n/a
47	chr7:57878777-57878827	ProgFib	skin:	n/a
48	chr7:57836342-57836392	K562	blood:	n/a
49	chr7:57830004-57830054	NT2-D1	testis:	n/a
50	chr7:57831919-57831969	NHDF-neo	bronchial:	n/a

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-24	chr7:57888037-57888136	NONHSAT120882
2	lnc-ZNF479-16	chr7:57882150-57882506	NONHSAT120880
3	lnc-ZNF479-14	chr7:57877307-57877718	NONHSAT120873
4	lnc-ZNF479-15	chr7:57879738-57880116	NONHSAT120878
5	lnc-ZNF716-24	chr7:57896673-57896752	NONHSAT120882
6	lnc-ZNF716-24	chr7:57894964-57895190	NONHSAT120882
7	lnc-ZNF716-21	chr7:57830672-57830879	NONHSAT120869
8	lnc-ZNF479-11	chr7:57830325-57830652	NONHSAT120868

No data

Variant related genes	Relation type
ENSG00000227015	TF binding region
ENSG00000224484	TF binding region
ENSG00000231484	TF binding region
ENSG00000231232	TF binding region
ENSG00000237236	TF binding region
ENSG00000271696	TF binding region
ENSG00000224653	TF binding region
ENSG00000230271	TF binding region
ENSG00000236907	TF binding region
ENSG00000232161	TF binding region
ENSG00000250923	TF binding region
ENSG00000250618	TF binding region
ENSG00000223836	TF binding region
ENSG00000227015	CpG island
ENSG00000224484	CpG island
ENSG00000231484	CpG island
ENSG00000231232	CpG island
ENSG00000237236	CpG island
ENSG00000271696	CpG island
ENSG00000224653	CpG island
ENSG00000230271	CpG island
ENSG00000236907	CpG island
ENSG00000232161	CpG island
ENSG00000250923	CpG island
ENSG00000250618	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 1305 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1305 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6962105	chr7:57829001-57829002	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144391692	chr7:57829030-57829031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550615057	chr7:57829031-57829032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371503813	chr7:57829093-57829094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530228258	chr7:57829133-57829134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548365429	chr7:57829140-57829141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371592494	chr7:57829202-57829203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs34382824	chr7:57829252-57829253	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368376661	chr7:57829274-57829275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527645270	chr7:57829291-57829292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190879249	chr7:57829306-57829307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571208033	chr7:57829340-57829341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538133376	chr7:57829341-57829342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531116807	chr7:57829359-57829360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113843015	chr7:57829360-57829361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556750071	chr7:57829362-57829363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568524155	chr7:57829368-57829369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183932405	chr7:57829372-57829373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553413517	chr7:57829375-57829376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116815171	chr7:57829382-57829383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188835996	chr7:57829402-57829403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs386713704	chr7:57829421-57829422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs190338160	chr7:57829422-57829423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543319215	chr7:57829441-57829442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10247986	chr7:57829448-57829449	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372764153	chr7:57829452-57829453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368172598	chr7:57829477-57829478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs151202429	chr7:57829478-57829479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571332852	chr7:57829531-57829532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376292832	chr7:57829533-57829534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35182394	chr7:57829559-57829560	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs560607034	chr7:57829605-57829606	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs527782388	chr7:57829631-57829632	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs182890728	chr7:57829637-57829638	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs552629583	chr7:57829647-57829648	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs549087638	chr7:57829653-57829654	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs187526043	chr7:57829654-57829655	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs570739253	chr7:57829655-57829656	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs532045543	chr7:57829657-57829658	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs371375227	chr7:57829684-57829685	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs568649683	chr7:57829690-57829691	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs535712829	chr7:57829718-57829719	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs553945432	chr7:57829745-57829746	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs191620655	chr7:57829747-57829748	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs184893228	chr7:57829748-57829749	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs538312736	chr7:57829758-57829759	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs575921425	chr7:57829763-57829764	ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs543705400	chr7:57829814-57829815	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs555331422	chr7:57829834-57829835	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs187758548	chr7:57829835-57829836	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57828600-57834800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57877600-57883400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:57878000-57880000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:57879400-57879600	Enhancers	K562	blood
5	chr7:57879400-57881000	ZNF genes & repeats	Gastric	stomach
6	chr7:57879600-57880800	Weak transcription	K562	blood
7	chr7:57880400-57881400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:57880800-57881200	Enhancers	K562	blood
9	chr7:57880800-57881400	ZNF genes & repeats	Spleen	Spleen
10	chr7:57881200-57881600	Active TSS	K562	blood
11	chr7:57885400-57885800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:57885400-57886600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr7:57885400-57886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:57885400-57886800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr7:57885800-57886800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr7:57886000-57886400	ZNF genes & repeats	Esophagus	oesophagus
17	chr7:57886000-57886400	ZNF genes & repeats	Pancreas	Pancrea
18	chr7:57886000-57886600	ZNF genes & repeats	Gastric	stomach
19	chr7:57886000-57886800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:57886200-57886800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:57917400-57918000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:57917800-57918400	Active TSS	Fetal Heart	heart
23	chr7:57918200-57918400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr7:57918200-57918800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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