Variant report

Variant	nsv1023705
Chromosome Location	chr7:57832030-57914385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:796)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

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	chr7:57863811-57864008	A549	lung:	n/a	chr7:57863882-57863893 chr7:57863882-57863893 chr7:57863882-57863895 chr7:57863882-57863895
4	CEBPB	chr7:57880837-57881082	K562	blood:	n/a	n/a
5	CTCF	chr7:57912953-57913042	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:57869151-57869216	GM10248	blood:	n/a	n/a
7	CTCF	chr7:57894413-57894427	Medullo	brain:	n/a	n/a
8	CTCF	chr7:57876592-57876671	GM10248	blood:	n/a	n/a
9	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
10	CTCF	chr7:57876276-57876373	LNCaP	prostate:	n/a	n/a
11	CTCF	chr7:57871656-57871687	GM13976	blood:	n/a	n/a
12	CTCF	chr7:57886700-57886850	NHLF	lung:	n/a	n/a
13	CTCF	chr7:57841731-57841799	GM20000	blood:	n/a	n/a
14	CTCF	chr7:57879165-57879360	K562	blood:	n/a	n/a
15	CTCF	chr7:57853726-57853812	GM20000	blood:	n/a	n/a
16	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
17	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
18	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
19	EP300	chr7:57846494-57846646	GM12878	blood:	n/a	n/a
20	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
21	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
22	FOSL2	chr7:57905346-57905642	HepG2	liver:	n/a	n/a
23	FOSL2	chr7:57899967-57900292	HepG2	liver:	n/a	n/a
24	FOSL2	chr7:57899633-57899890	HepG2	liver:	n/a	n/a
25	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
26	FOSL2	chr7:57881715-57882320	HepG2	liver:	n/a	n/a
27	FOSL2	chr7:57897382-57898171	HepG2	liver:	n/a	n/a
28	FOSL2	chr7:57887938-57888425	HepG2	liver:	n/a	n/a
29	FOSL2	chr7:57889953-57890257	HepG2	liver:	n/a	n/a
30	FOSL2	chr7:57894013-57894257	HepG2	liver:	n/a	n/a
31	FOSL2	chr7:57900673-57901027	HepG2	liver:	n/a	n/a
32	FOSL2	chr7:57906943-57907196	HepG2	liver:	n/a	n/a
33	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
34	FOXA2	chr7:57871008-57871371	A549	lung:	n/a	n/a
35	GABPA	chr7:57887987-57888364	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr7:57860796-57860991	Hela-S3	cervix:	n/a	n/a
37	GATA3	chr7:57886145-57886626	MCF-7	breast:	n/a	n/a
38	HEY1	chr7:57881981-57882236	K562	blood:	n/a	n/a
39	HEY1	chr7:57881359-57881555	K562	blood:	n/a	n/a
40	HEY1	chr7:57879109-57879271	K562	blood:	n/a	n/a
41	HEY1	chr7:57881356-57881656	K562	blood:	n/a	n/a
42	HEY1	chr7:57881954-57882188	K562	blood:	n/a	n/a
43	IRF4	chr7:57881923-57882364	GM12878	blood:	n/a	n/a
44	IRF4	chr7:57888181-57888618	GM12878	blood:	n/a	n/a
45	IRF4	chr7:57881980-57882275	GM12878	blood:	n/a	n/a
46	JUN	chr7:57881080-57881217	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr7:57904664-57904842	HepG2	liver:	n/a	n/a
48	JUND	chr7:57901820-57902011	HepG2	liver:	n/a	n/a
49	JUND	chr7:57888196-57888386	HepG2	liver:	n/a	n/a
50	JUND	chr7:57905469-57905625	HepG2	liver:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57878893-57878943	HL-60	blood:	n/a
2	chr7:57880009-57880059	BE2_C	brain:	n/a
3	chr7:57878777-57878827	NHDF-neo	bronchial:	n/a
4	chr7:57878893-57878943	HL-60	blood:	n/a
5	chr7:57880009-57880059	BE2_C	brain:	n/a
6	chr7:57878777-57878827	NHDF-neo	bronchial:	n/a
7	chr7:57835813-57835863	AG09319	gingival:	n/a
8	chr7:57836342-57836392	K562	blood:	n/a
9	chr7:57878945-57878995	HL-60	blood:	n/a
10	chr7:57896675-57896725	NT2-D1	testis:	n/a
11	chr7:57836212-57836262	AG09319	gingival:	n/a
12	chr7:57832834-57832884	HAEpiC	amniotic membrane:	n/a
13	chr7:57880009-57880059	AoSMC	blood vessel:	n/a
14	chr7:57878945-57878995	SKMC	muscle:	n/a
15	chr7:57895070-57895120	NT2-D1	testis:	n/a
16	chr7:57895070-57895120	HAEpiC	amniotic membrane:	n/a
17	chr7:57895070-57895120	LNCaP	prostate:	n/a
18	chr7:57835813-57835863	AoSMC	blood vessel:	n/a
19	chr7:57878893-57878943	HNPCEpiC	eye:	n/a
20	chr7:57880009-57880059	U87	brain:	n/a
21	chr7:57878893-57878943	GM12878	blood:	n/a
22	chr7:57878777-57878827	Hepatocyte	liver:	n/a
23	chr7:57836911-57836961	U87	brain:	n/a
24	chr7:57836911-57836961	NT2-D1	testis:	n/a
25	chr7:57878777-57878827	H1-hESC	embryonic stem cell:	embryo
26	chr7:57880009-57880059	Jurkat	blood:	n/a
27	chr7:57881130-57881180	SK-N-MC	brain:	n/a
28	chr7:57835813-57835863	Hela-S3	cervix:	n/a
29	chr7:57878893-57878943	Jurkat	blood:	n/a
30	chr7:57836212-57836262	HIPEpiC	eye:	n/a
31	chr7:57880009-57880059	HEEpiC	esophagus:	n/a
32	chr7:57896675-57896725	U87	brain:	n/a
33	chr7:57832834-57832884	BJ	skin:	n/a
34	chr7:57835813-57835863	HCT-116	colon:	n/a
35	chr7:57895070-57895120	NHBE	bronchial:	n/a
36	chr7:57836212-57836262	IMR90	lung:	fetal
37	chr7:57878777-57878827	AG09309	skin:	n/a
38	chr7:57895070-57895120	HRE	kidney:	n/a
39	chr7:57835813-57835863	PrEC	prostate:	n/a
40	chr7:57878945-57878995	CMK	blood:	n/a
41	chr7:57895070-57895120	HL-60	blood:	n/a
42	chr7:57832834-57832884	GM12878	blood:	n/a
43	chr7:57878893-57878943	SK-N-MC	brain:	n/a
44	chr7:57880009-57880059	HRE	kidney:	n/a
45	chr7:57836212-57836262	T-47D	breast:	n/a
46	chr7:57880009-57880059	NHBE	bronchial:	n/a
47	chr7:57896675-57896725	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:57835813-57835863	HNPCEpiC	eye:	n/a
49	chr7:57836342-57836392	NHBE	bronchial:	n/a
50	chr7:57832834-57832884	Hela-S3	cervix:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-16	chr7:57882150-57882506	NONHSAT120880
2	lnc-ZNF479-14	chr7:57877307-57877718	NONHSAT120873
3	lnc-ZNF479-15	chr7:57879738-57880116	NONHSAT120878
4	lnc-ZNF716-24	chr7:57896673-57896752	NONHSAT120882
5	lnc-ZNF716-24	chr7:57888037-57888136	NONHSAT120882
6	lnc-ZNF716-24	chr7:57894964-57895190	NONHSAT120882

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
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
ENSG00000250923	CpG island
ENSG00000250618	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 986 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550297928	chr7:57832043-57832044	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs184344923	chr7:57832091-57832092	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs13233938	chr7:57832092-57832093	ZNF genes & repeats	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369796674	chr7:57832106-57832107	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs556770940	chr7:57832125-57832126	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs144965837	chr7:57832126-57832127	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs566296627	chr7:57832134-57832135	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs186955449	chr7:57832146-57832147	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs546639707	chr7:57832174-57832175	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs571558403	chr7:57832192-57832193	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs11978150	chr7:57832217-57832218	ZNF genes & repeats	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557073614	chr7:57832219-57832220	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs575929980	chr7:57832232-57832233	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs536914264	chr7:57832258-57832259	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs555226356	chr7:57832266-57832267	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs573431690	chr7:57832272-57832273	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs192464155	chr7:57832296-57832297	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs544220488	chr7:57832304-57832305	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs576863237	chr7:57832313-57832314	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs185015918	chr7:57832317-57832318	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs562328195	chr7:57832318-57832319	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs530017140	chr7:57832362-57832363	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs568957253	chr7:57832379-57832380	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs559918953	chr7:57832385-57832386	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs527440073	chr7:57832436-57832437	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs371019014	chr7:57832474-57832475	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs551941449	chr7:57832486-57832487	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs571758273	chr7:57832534-57832535	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs188948548	chr7:57832564-57832565	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs111252257	chr7:57832589-57832590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550970823	chr7:57832666-57832667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564206902	chr7:57832668-57832669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376034002	chr7:57832680-57832681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555261328	chr7:57832681-57832682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146779149	chr7:57832688-57832689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534441792	chr7:57832753-57832754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181639371	chr7:57832759-57832760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184717597	chr7:57832767-57832768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576904572	chr7:57832777-57832778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140528872	chr7:57832779-57832780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540303335	chr7:57832786-57832787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574047211	chr7:57832790-57832791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541728307	chr7:57832801-57832802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189583713	chr7:57832802-57832803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560106471	chr7:57832813-57832814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527576149	chr7:57832814-57832815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6954911	chr7:57832849-57832850	ZNF genes & repeats	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs117843874	chr7:57832854-57832855	ZNF genes & repeats	CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs532663311	chr7:57832862-57832863	ZNF genes & repeats	CpG island	2 gene(s)	Overlapped CNVs	n/a
50	rs550752931	chr7:57832916-57832917	ZNF genes & repeats	n/a	n/a	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:20 , 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

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