Variant report

Variant	nsv818508
Chromosome Location	chr7:57868103-57886384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

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	CEBPB	chr7:57880837-57881082	K562	blood:	n/a	n/a
3	CTCF	chr7:57876276-57876373	LNCaP	prostate:	n/a	n/a
4	CTCF	chr7:57879165-57879360	K562	blood:	n/a	n/a
5	CTCF	chr7:57871656-57871687	GM13976	blood:	n/a	n/a
6	CTCF	chr7:57876592-57876671	GM10248	blood:	n/a	n/a
7	CTCF	chr7:57869151-57869216	GM10248	blood:	n/a	n/a
8	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
9	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
10	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
11	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
12	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
13	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
14	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
15	FOSL2	chr7:57881715-57882320	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
17	FOXA2	chr7:57871008-57871371	A549	lung:	n/a	n/a
18	GATA3	chr7:57886145-57886626	MCF-7	breast:	n/a	n/a
19	HEY1	chr7:57881954-57882188	K562	blood:	n/a	n/a
20	HEY1	chr7:57881981-57882236	K562	blood:	n/a	n/a
21	HEY1	chr7:57881356-57881656	K562	blood:	n/a	n/a
22	HEY1	chr7:57881359-57881555	K562	blood:	n/a	n/a
23	HEY1	chr7:57879109-57879271	K562	blood:	n/a	n/a
24	IRF4	chr7:57881980-57882275	GM12878	blood:	n/a	n/a
25	IRF4	chr7:57881923-57882364	GM12878	blood:	n/a	n/a
26	JUN	chr7:57881080-57881217	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr7:57885262-57885452	HepG2	liver:	n/a	n/a
28	MAZ	chr7:57879356-57879364	K562	blood:	n/a	n/a
29	NRF1	chr7:57879176-57879371	K562	blood:	n/a	chr7:57879325-57879336
30	NRF1	chr7:57879209-57879640	SK-N-SH	brain:	n/a	chr7:57879325-57879336
31	NRF1	chr7:57881494-57882037	SK-N-SH	brain:	n/a	n/a
32	PAX5	chr7:57881289-57881475	GM12878	blood:	n/a	n/a
33	PAX5	chr7:57880564-57880729	GM12878	blood:	n/a	n/a
34	PAX5	chr7:57882026-57882241	GM12878	blood:	n/a	n/a
35	PAX5	chr7:57879790-57879978	GM12878	blood:	n/a	n/a
36	PAX5	chr7:57881794-57882121	GM12878	blood:	n/a	n/a
37	PAX5	chr7:57881968-57882231	GM12878	blood:	n/a	n/a
38	PBX3	chr7:57882057-57882162	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:57881926-57882276	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:57871610-57871722	A549	lung:	n/a	n/a
41	POLR2A	chr7:57871604-57871731	MCF-7	breast:	n/a	n/a
42	POU2F2	chr7:57882062-57882197	GM12878	blood:	n/a	n/a
43	RCOR1	chr7:57886058-57886221	HepG2	liver:	n/a	n/a
44	RXRA	chr7:57881983-57882231	HepG2	liver:	n/a	n/a
45	RXRA	chr7:57884896-57885570	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr7:57882050-57882183	HepG2	liver:	n/a	n/a
47	SP1	chr7:57881956-57882262	GM12878	blood:	n/a	n/a
48	SPI1	chr7:57882047-57882177	K562	blood:	n/a	n/a
49	SPI1	chr7:57882035-57882186	GM12878	blood:	n/a	n/a
50	SUZ12	chr7:57886306-57886681	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57878893-57878943	BJ	skin:	n/a
2	chr7:57881130-57881180	MCF10A-Er-Src	breast:	n/a
3	chr7:57881100-57881150	PFSK-1	brain:	n/a
4	chr7:57878945-57878995	T-47D	breast:	n/a
5	chr7:57878777-57878827	GM06990	blood:	n/a
6	chr7:57881130-57881180	U87	brain:	n/a
7	chr7:57878893-57878943	PANC-1	pancreas:	n/a
8	chr7:57880009-57880059	RPTEC	kidney:	n/a
9	chr7:57881100-57881150	HEK293	kidney:	embryo
10	chr7:57878945-57878995	LNCaP	prostate:	n/a
11	chr7:57878945-57878995	SK-N-SH_RA	brain:	n/a
12	chr7:57881100-57881150	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:57880009-57880059	HIPEpiC	eye:	n/a
14	chr7:57881100-57881150	Caco-2	colon:	n/a
15	chr7:57878945-57878995	ECC-1	luminal epithelium:	n/a
16	chr7:57880009-57880059	PANC-1	pancreas:	n/a
17	chr7:57881100-57881150	HCM	heart:	n/a
18	chr7:57878893-57878943	CMK	blood:	n/a
19	chr7:57878777-57878827	PFSK-1	brain:	n/a
20	chr7:57878945-57878995	AG04450	lung:	fetal
21	chr7:57881130-57881180	HMEC	breast:	n/a
22	chr7:57878893-57878943	SKMC	muscle:	n/a
23	chr7:57878777-57878827	RPTEC	kidney:	n/a
24	chr7:57878945-57878995	HRCEpiC	kidney:	n/a
25	chr7:57878777-57878827	Hela-S3	cervix:	n/a
26	chr7:57881100-57881150	HRCEpiC	kidney:	n/a
27	chr7:57881100-57881150	NB4	blood:	n/a
28	chr7:57878945-57878995	NHBE	bronchial:	n/a
29	chr7:57880009-57880059	NHDF-neo	bronchial:	n/a
30	chr7:57878777-57878827	SK-N-MC	brain:	n/a
31	chr7:57880009-57880059	GM12892	blood:	n/a
32	chr7:57880009-57880059	GM19239	blood:	n/a
33	chr7:57878893-57878943	GM06990	blood:	n/a
34	chr7:57878893-57878943	PrEC	prostate:	n/a
35	chr7:57881100-57881150	HCPEpiC	choroid plexus:	n/a
36	chr7:57881130-57881180	NT2-D1	testis:	n/a
37	chr7:57880009-57880059	CMK	blood:	n/a
38	chr7:57881100-57881150	GM12878	blood:	n/a
39	chr7:57881130-57881180	HL-60	blood:	n/a
40	chr7:57881100-57881150	HRPEpiC	eye:	n/a
41	chr7:57878777-57878827	GM19239	blood:	n/a
42	chr7:57878945-57878995	A549	lung:	n/a
43	chr7:57878777-57878827	AoSMC	blood vessel:	n/a
44	chr7:57878777-57878827	NT2-D1	testis:	n/a
45	chr7:57880009-57880059	HCPEpiC	choroid plexus:	n/a
46	chr7:57881130-57881180	IMR90	lung:	fetal
47	chr7:57881130-57881180	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:57878893-57878943	NB4	blood:	n/a
49	chr7:57881100-57881150	HIPEpiC	eye:	n/a
50	chr7:57880009-57880059	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-14	chr7:57877307-57877718	NONHSAT120873
2	lnc-ZNF479-15	chr7:57879738-57880116	NONHSAT120878
3	lnc-ZNF479-16	chr7:57882150-57882506	NONHSAT120880

No data

Variant related genes	Relation type
ENSG00000231484	TF binding region
ENSG00000231232	TF binding region
ENSG00000237236	TF binding region
ENSG00000224653	TF binding region
ENSG00000236907	TF binding region
ENSG00000250618	TF binding region
ENSG00000223836	TF binding region
ENSG00000231484	CpG island
ENSG00000231232	CpG island
ENSG00000237236	CpG island
ENSG00000224653	CpG island
ENSG00000236907	CpG island
ENSG00000250618	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 667 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:667 , 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	rs200390592	chr7:57876314-57876315	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs200911623	chr7:57876333-57876334	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs372719745	chr7:57876598-57876599	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs143360676	chr7:57877322-57877323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs562656698	chr7:57877328-57877329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs558427748	chr7:57877350-57877351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs373230968	chr7:57877367-57877368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs187511280	chr7:57877368-57877369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201593880	chr7:57877410-57877411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549490501	chr7:57877437-57877438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113814388	chr7:57877439-57877440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs561344561	chr7:57877440-57877441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs114954280	chr7:57877446-57877447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs547296332	chr7:57877465-57877466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs207467957	chr7:57877469-57877470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs148356312	chr7:57877478-57877479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs6557591	chr7:57877485-57877486	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192726477	chr7:57877515-57877516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs200563256	chr7:57877516-57877517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112156731	chr7:57877523-57877524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs554324536	chr7:57877592-57877593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538499265	chr7:57877599-57877600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs368910585	chr7:57877610-57877611	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs7385323	chr7:57877613-57877614	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs558829857	chr7:57877623-57877624	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150538599	chr7:57877636-57877637	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs572988247	chr7:57877642-57877643	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs544495481	chr7:57877660-57877661	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs183218028	chr7:57877662-57877663	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs7385327	chr7:57877665-57877666	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs562586101	chr7:57877686-57877687	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs140248086	chr7:57877688-57877689	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs561865634	chr7:57877700-57877701	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142722019	chr7:57877724-57877725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544557038	chr7:57877739-57877740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528505108	chr7:57877740-57877741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147427943	chr7:57877801-57877802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564389852	chr7:57877804-57877805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187876848	chr7:57877819-57877820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs199735422	chr7:57877845-57877846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550851287	chr7:57877850-57877851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73697621	chr7:57877872-57877873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535081777	chr7:57877882-57877883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116218620	chr7:57877933-57877934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7385065	chr7:57877934-57877935	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566411070	chr7:57877937-57877938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533870165	chr7:57877942-57877943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs546993489	chr7:57877961-57877962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192652297	chr7:57877969-57877970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576903675	chr7:57877984-57877985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Wilms tumour	21544195	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:19 , 50 per page) page: 1

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

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