Variant report

Variant	esv3415915
Chromosome Location	chr7:57877710-57883908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
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	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
6	EP300	chr7:57882017-57882345	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	chr7:57881981-57882236	K562	blood:	n/a	n/a
10	HEY1	chr7:57881356-57881656	K562	blood:	n/a	n/a
11	HEY1	chr7:57881359-57881555	K562	blood:	n/a	n/a
12	HEY1	chr7:57881954-57882188	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	chr7:57879176-57879371	K562	blood:	n/a	chr7:57879325-57879336
19	NRF1	chr7:57881494-57882037	SK-N-SH	brain:	n/a	n/a
20	PAX5	chr7:57882026-57882241	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	chr7:57881968-57882231	GM12878	blood:	n/a	n/a
24	PAX5	chr7:57879790-57879978	GM12878	blood:	n/a	n/a
25	PAX5	chr7:57880564-57880729	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	chr7:57882035-57882186	GM12878	blood:	n/a	n/a
33	SPI1	chr7:57882047-57882177	K562	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	chr7:57882017-57882276	K562	blood:	n/a	n/a
39	ZBTB33	chr7:57882004-57882335	HepG2	liver:	n/a	n/a
40	ZBTB33	chr7:57881934-57882239	GM12878	blood:	n/a	n/a
41	ZBTB33	chr7:57882063-57882166	HepG2	liver:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57881130-57881180	GM06990	blood:	n/a
2	chr7:57881130-57881180	GM06990	blood:	n/a
3	chr7:57878777-57878827	PANC-1	pancreas:	n/a
4	chr7:57878945-57878995	AG04450	lung:	fetal
5	chr7:57881130-57881180	PANC-1	pancreas:	n/a
6	chr7:57881100-57881150	BJ	skin:	n/a
7	chr7:57878893-57878943	HNPCEpiC	eye:	n/a
8	chr7:57878777-57878827	AG04450	lung:	fetal
9	chr7:57878893-57878943	PANC-1	pancreas:	n/a
10	chr7:57881130-57881180	HRPEpiC	eye:	n/a
11	chr7:57881130-57881180	AG04449	skin:	fetal
12	chr7:57878945-57878995	Jurkat	blood:	n/a
13	chr7:57880009-57880059	AG09309	skin:	n/a
14	chr7:57878945-57878995	GM12891	blood:	n/a
15	chr7:57881100-57881150	Jurkat	blood:	n/a
16	chr7:57878777-57878827	CMK	blood:	n/a
17	chr7:57878945-57878995	HCF	heart:	n/a
18	chr7:57881130-57881180	Hela-S3	cervix:	n/a
19	chr7:57878777-57878827	SAEC	small airway:	n/a
20	chr7:57878777-57878827	HCM	heart:	n/a
21	chr7:57878893-57878943	ovcar-3	ovarian:	n/a
22	chr7:57880009-57880059	HMEC	breast:	n/a
23	chr7:57881130-57881180	MCF-7	breast:	n/a
24	chr7:57878777-57878827	HRPEpiC	eye:	n/a
25	chr7:57878893-57878943	HEEpiC	esophagus:	n/a
26	chr7:57881100-57881150	PrEC	prostate:	n/a
27	chr7:57881130-57881180	PrEC	prostate:	n/a
28	chr7:57880009-57880059	SKMC	muscle:	n/a
29	chr7:57878893-57878943	SAEC	small airway:	n/a
30	chr7:57878777-57878827	HNPCEpiC	eye:	n/a
31	chr7:57880009-57880059	SK-N-MC	brain:	n/a
32	chr7:57881130-57881180	AG04450	lung:	fetal
33	chr7:57880009-57880059	IMR90	lung:	fetal
34	chr7:57878893-57878943	MCF10A-Er-Src	breast:	n/a
35	chr7:57878893-57878943	CMK	blood:	n/a
36	chr7:57881130-57881180	U87	brain:	n/a
37	chr7:57881100-57881150	MCF-7	breast:	n/a
38	chr7:57881130-57881180	H1-hESC	embryonic stem cell:	embryo
39	chr7:57878893-57878943	SK-N-SH_RA	brain:	n/a
40	chr7:57878945-57878995	SK-N-SH_RA	brain:	n/a
41	chr7:57880009-57880059	HAEpiC	amniotic membrane:	n/a
42	chr7:57881130-57881180	ovcar-3	ovarian:	n/a
43	chr7:57878893-57878943	HL-60	blood:	n/a
44	chr7:57878893-57878943	Hela-S3	cervix:	n/a
45	chr7:57878777-57878827	NHDF-neo	bronchial:	n/a
46	chr7:57880009-57880059	HIPEpiC	eye:	n/a
47	chr7:57878893-57878943	GM19239	blood:	n/a
48	chr7:57880009-57880059	AG10803	skin:	n/a
49	chr7:57878893-57878943	NHDF-neo	bronchial:	n/a
50	chr7:57880009-57880059	T-47D	breast:	n/a

No data

(count:3 , 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

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
ENSG00000223836	TF binding region
ENSG00000231484	CpG island
ENSG00000231232	CpG island
ENSG00000237236	CpG island
ENSG00000224653	CpG island
ENSG00000236907	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 479 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142722019	chr7:57877724-57877725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544557038	chr7:57877739-57877740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528505108	chr7:57877740-57877741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147427943	chr7:57877801-57877802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564389852	chr7:57877804-57877805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187876848	chr7:57877819-57877820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199735422	chr7:57877845-57877846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550851287	chr7:57877850-57877851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73697621	chr7:57877872-57877873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535081777	chr7:57877882-57877883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116218620	chr7:57877933-57877934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7385065	chr7:57877934-57877935	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566411070	chr7:57877937-57877938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533870165	chr7:57877942-57877943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546993489	chr7:57877961-57877962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192652297	chr7:57877969-57877970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576903675	chr7:57877984-57877985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199863512	chr7:57878003-57878004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538149156	chr7:57878037-57878038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73697622	chr7:57878082-57878083	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574708151	chr7:57878083-57878084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541628372	chr7:57878084-57878085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs13231254	chr7:57878090-57878091	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373613180	chr7:57878124-57878125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184462876	chr7:57878129-57878130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540720537	chr7:57878193-57878194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs13231396	chr7:57878217-57878218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532330209	chr7:57878273-57878274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544504101	chr7:57878306-57878307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188764869	chr7:57878314-57878315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs192596388	chr7:57878317-57878318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530245371	chr7:57878319-57878320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113703257	chr7:57878326-57878327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567033448	chr7:57878327-57878328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113351723	chr7:57878379-57878380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139801493	chr7:57878380-57878381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115172648	chr7:57878389-57878390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537813896	chr7:57878419-57878420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112166642	chr7:57878451-57878452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73345669	chr7:57878463-57878464	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558192045	chr7:57878466-57878467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568401000	chr7:57878477-57878478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535720422	chr7:57878518-57878519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149924728	chr7:57878529-57878530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184935362	chr7:57878551-57878552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs117467834	chr7:57878576-57878577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552940889	chr7:57878577-57878578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376857593	chr7:57878582-57878583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544164227	chr7:57878583-57878584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562526273	chr7:57878591-57878592	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: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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