Variant report

Variant	esv2563697
Chromosome Location	chr7:57878878-57882615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

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	chr7:57879165-57879360	K562	blood:	n/a	n/a
4	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
5	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
6	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
7	FOSL2	chr7:57881715-57882320	HepG2	liver:	n/a	n/a
8	HEY1	chr7:57879109-57879271	K562	blood:	n/a	n/a
9	HEY1	chr7:57881356-57881656	K562	blood:	n/a	n/a
10	HEY1	chr7:57881954-57882188	K562	blood:	n/a	n/a
11	HEY1	chr7:57881359-57881555	K562	blood:	n/a	n/a
12	HEY1	chr7:57881981-57882236	K562	blood:	n/a	n/a
13	IRF4	chr7:57881923-57882364	GM12878	blood:	n/a	n/a
14	IRF4	chr7:57881980-57882275	GM12878	blood:	n/a	n/a
15	JUN	chr7:57881080-57881217	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr7:57879356-57879364	K562	blood:	n/a	n/a
17	NRF1	chr7:57879209-57879640	SK-N-SH	brain:	n/a	chr7:57879325-57879336
18	NRF1	chr7:57881494-57882037	SK-N-SH	brain:	n/a	n/a
19	NRF1	chr7:57879176-57879371	K562	blood:	n/a	chr7:57879325-57879336
20	PAX5	chr7:57881968-57882231	GM12878	blood:	n/a	n/a
21	PAX5	chr7:57881289-57881475	GM12878	blood:	n/a	n/a
22	PAX5	chr7:57881794-57882121	GM12878	blood:	n/a	n/a
23	PAX5	chr7:57880564-57880729	GM12878	blood:	n/a	n/a
24	PAX5	chr7:57879790-57879978	GM12878	blood:	n/a	n/a
25	PAX5	chr7:57882026-57882241	GM12878	blood:	n/a	n/a
26	PBX3	chr7:57882057-57882162	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:57881926-57882276	GM12878	blood:	n/a	n/a
28	POU2F2	chr7:57882062-57882197	GM12878	blood:	n/a	n/a
29	RXRA	chr7:57881983-57882231	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr7:57882050-57882183	HepG2	liver:	n/a	n/a
31	SP1	chr7:57881956-57882262	GM12878	blood:	n/a	n/a
32	SPI1	chr7:57882047-57882177	K562	blood:	n/a	n/a
33	SPI1	chr7:57882035-57882186	GM12878	blood:	n/a	n/a
34	TCF12	chr7:57882043-57882241	GM12878	blood:	n/a	n/a
35	TCF3	chr7:57879414-57879633	GM12878	blood:	n/a	n/a
36	USF1	chr7:57882054-57882191	HepG2	liver:	n/a	n/a
37	USF1	chr7:57882041-57882159	HepG2	liver:	n/a	n/a
38	ZBTB33	chr7:57882004-57882335	HepG2	liver:	n/a	n/a
39	ZBTB33	chr7:57882063-57882166	HepG2	liver:	n/a	n/a
40	ZBTB33	chr7:57882017-57882276	K562	blood:	n/a	n/a
41	ZBTB33	chr7:57881934-57882239	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57878893-57878943	SAEC	small airway:	n/a
2	chr7:57878945-57878995	SK-N-SH	brain:	n/a
3	chr7:57881100-57881150	SK-N-SH_RA	brain:	n/a
4	chr7:57878945-57878995	PFSK-1	brain:	n/a
5	chr7:57878893-57878943	LNCaP	prostate:	n/a
6	chr7:57881100-57881150	ProgFib	skin:	n/a
7	chr7:57881100-57881150	ECC-1	luminal epithelium:	n/a
8	chr7:57881100-57881150	AG09309	skin:	n/a
9	chr7:57881100-57881150	HRCEpiC	kidney:	n/a
10	chr7:57878893-57878943	K562	blood:	n/a
11	chr7:57881100-57881150	GM12878	blood:	n/a
12	chr7:57881130-57881180	HEEpiC	esophagus:	n/a
13	chr7:57880009-57880059	A549	lung:	n/a
14	chr7:57881100-57881150	H1-hESC	embryonic stem cell:	embryo
15	chr7:57880009-57880059	SK-N-SH	brain:	n/a
16	chr7:57880009-57880059	ProgFib	skin:	n/a
17	chr7:57881130-57881180	SK-N-SH_RA	brain:	n/a
18	chr7:57878893-57878943	BJ	skin:	n/a
19	chr7:57881130-57881180	NB4	blood:	n/a
20	chr7:57880009-57880059	SK-N-MC	brain:	n/a
21	chr7:57880009-57880059	HRPEpiC	eye:	n/a
22	chr7:57881130-57881180	PANC-1	pancreas:	n/a
23	chr7:57881130-57881180	U87	brain:	n/a
24	chr7:57878945-57878995	HCPEpiC	choroid plexus:	n/a
25	chr7:57881100-57881150	SK-N-MC	brain:	n/a
26	chr7:57878945-57878995	ProgFib	skin:	n/a
27	chr7:57881130-57881180	HNPCEpiC	eye:	n/a
28	chr7:57881130-57881180	HL-60	blood:	n/a
29	chr7:57881130-57881180	K562	blood:	n/a
30	chr7:57880009-57880059	PANC-1	pancreas:	n/a
31	chr7:57878945-57878995	NHBE	bronchial:	n/a
32	chr7:57881100-57881150	MCF10A-Er-Src	breast:	n/a
33	chr7:57881100-57881150	HAEpiC	amniotic membrane:	n/a
34	chr7:57880009-57880059	HCM	heart:	n/a
35	chr7:57878945-57878995	ovcar-3	ovarian:	n/a
36	chr7:57881130-57881180	ECC-1	luminal epithelium:	n/a
37	chr7:57878893-57878943	HRE	kidney:	n/a
38	chr7:57881130-57881180	HCM	heart:	n/a
39	chr7:57881130-57881180	GM12892	blood:	n/a
40	chr7:57881130-57881180	NH-A	brain:	n/a
41	chr7:57881100-57881150	NT2-D1	testis:	n/a
42	chr7:57881100-57881150	HEEpiC	esophagus:	n/a
43	chr7:57881130-57881180	Jurkat	blood:	n/a
44	chr7:57878893-57878943	GM12891	blood:	n/a
45	chr7:57881130-57881180	SK-N-MC	brain:	n/a
46	chr7:57881100-57881150	Caco-2	colon:	n/a
47	chr7:57881100-57881150	BJ	skin:	n/a
48	chr7:57878893-57878943	PrEC	prostate:	n/a
49	chr7:57881100-57881150	RPTEC	kidney:	n/a
50	chr7:57881130-57881180	MCF10A-Er-Src	breast:	n/a

No data

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

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

No data

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

Extended variants
information (count: 349 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574765817	chr7:57878893-57878894	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
2	rs200274695	chr7:57878913-57878914	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
3	rs542163611	chr7:57878917-57878918	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
4	rs144229581	chr7:57878919-57878920	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
5	rs555492213	chr7:57878945-57878946	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
6	rs183799510	chr7:57878956-57878957	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
7	rs575544768	chr7:57878981-57878982	ZNF genes & repeats	CpG island	3 gene(s)	Overlapped CNVs	n/a
8	rs368387409	chr7:57879052-57879053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189295533	chr7:57879053-57879054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114365783	chr7:57879073-57879074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374200641	chr7:57879074-57879075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549896131	chr7:57879093-57879094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181992998	chr7:57879095-57879096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114962849	chr7:57879099-57879100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544374274	chr7:57879113-57879114	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs146014554	chr7:57879143-57879144	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs547394677	chr7:57879145-57879146	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs565930327	chr7:57879176-57879177	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs539330023	chr7:57879188-57879189	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs551189156	chr7:57879262-57879263	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs569510473	chr7:57879276-57879277	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs537989835	chr7:57879277-57879278	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs556197475	chr7:57879301-57879302	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs185786467	chr7:57879308-57879309	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs535808273	chr7:57879329-57879330	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs117977982	chr7:57879341-57879342	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs200329430	chr7:57879343-57879344	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs572727336	chr7:57879347-57879348	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs117442418	chr7:57879396-57879397	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs528680770	chr7:57879423-57879424	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs2177801	chr7:57879430-57879431	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs368329599	chr7:57879453-57879454	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs113988537	chr7:57879454-57879455	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs372419735	chr7:57879458-57879459	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs113743330	chr7:57879480-57879481	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs202121794	chr7:57879482-57879483	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs191968051	chr7:57879483-57879484	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs111287501	chr7:57879495-57879496	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs543543821	chr7:57879503-57879504	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs112201773	chr7:57879509-57879510	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs561791768	chr7:57879516-57879517	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs141113367	chr7:57879519-57879520	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs547401972	chr7:57879521-57879522	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs559062734	chr7:57879524-57879525	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs112893760	chr7:57879527-57879528	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs535444716	chr7:57879542-57879543	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs375406603	chr7:57879556-57879557	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs73345671	chr7:57879564-57879565	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs540115426	chr7:57879575-57879576	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs371192676	chr7:57879576-57879577	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	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:9 , 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

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