Variant report

Variant	nsv821177
Chromosome Location	chr7:57881957-57914393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

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	CTCF	chr7:57886700-57886850	NHLF	lung:	n/a	n/a
3	CTCF	chr7:57894413-57894427	Medullo	brain:	n/a	n/a
4	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
5	CTCF	chr7:57912953-57913042	LNCaP	prostate:	n/a	n/a
6	EBF1	chr7:57882038-57882193	GM12878	blood:	n/a	n/a
7	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
8	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
9	EP300	chr7:57882017-57882345	GM12878	blood:	n/a	n/a
10	EP300	chr7:57882048-57882218	GM12878	blood:	n/a	n/a
11	FOSL2	chr7:57897382-57898171	HepG2	liver:	n/a	n/a
12	FOSL2	chr7:57894013-57894257	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:57900673-57901027	HepG2	liver:	n/a	n/a
14	FOSL2	chr7:57889953-57890257	HepG2	liver:	n/a	n/a
15	FOSL2	chr7:57906943-57907196	HepG2	liver:	n/a	n/a
16	FOSL2	chr7:57881715-57882320	HepG2	liver:	n/a	n/a
17	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
18	FOSL2	chr7:57887938-57888425	HepG2	liver:	n/a	n/a
19	FOSL2	chr7:57899967-57900292	HepG2	liver:	n/a	n/a
20	FOSL2	chr7:57899633-57899890	HepG2	liver:	n/a	n/a
21	FOSL2	chr7:57905346-57905642	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
23	GABPA	chr7:57887987-57888364	Hela-S3	cervix:	n/a	n/a
24	GATA3	chr7:57886145-57886626	MCF-7	breast:	n/a	n/a
25	HEY1	chr7:57881954-57882188	K562	blood:	n/a	n/a
26	HEY1	chr7:57881981-57882236	K562	blood:	n/a	n/a
27	IRF4	chr7:57881980-57882275	GM12878	blood:	n/a	n/a
28	IRF4	chr7:57888181-57888618	GM12878	blood:	n/a	n/a
29	IRF4	chr7:57881923-57882364	GM12878	blood:	n/a	n/a
30	JUND	chr7:57887341-57887488	HepG2	liver:	n/a	n/a
31	JUND	chr7:57889651-57889848	HepG2	liver:	n/a	n/a
32	JUND	chr7:57904664-57904842	HepG2	liver:	n/a	n/a
33	JUND	chr7:57897460-57897713	HepG2	liver:	n/a	n/a
34	JUND	chr7:57885262-57885452	HepG2	liver:	n/a	n/a
35	JUND	chr7:57905469-57905625	HepG2	liver:	n/a	n/a
36	JUND	chr7:57901820-57902011	HepG2	liver:	n/a	n/a
37	JUND	chr7:57888196-57888386	HepG2	liver:	n/a	n/a
38	NRF1	chr7:57881494-57882037	SK-N-SH	brain:	n/a	n/a
39	PAX5	chr7:57908074-57908482	GM12878	blood:	n/a	n/a
40	PAX5	chr7:57905586-57905956	GM12878	blood:	n/a	n/a
41	PAX5	chr7:57882026-57882241	GM12878	blood:	n/a	n/a
42	PAX5	chr7:57889112-57889461	GM12878	blood:	n/a	n/a
43	PAX5	chr7:57887244-57887661	GM12878	blood:	n/a	n/a
44	PAX5	chr7:57904642-57905197	GM12878	blood:	n/a	n/a
45	PAX5	chr7:57881794-57882121	GM12878	blood:	n/a	n/a
46	PAX5	chr7:57881968-57882231	GM12878	blood:	n/a	n/a
47	PAX5	chr7:57897874-57898167	GM12878	blood:	n/a	n/a
48	PAX5	chr7:57888229-57888887	GM12878	blood:	n/a	n/a
49	PBX3	chr7:57902297-57902420	GM12878	blood:	n/a	n/a
50	PBX3	chr7:57882057-57882162	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57896675-57896725	H1-hESC	embryonic stem cell:	embryo
2	chr7:57895070-57895120	GM12892	blood:	n/a
3	chr7:57895070-57895120	HCM	heart:	n/a
4	chr7:57895070-57895120	H1-hESC	embryonic stem cell:	embryo
5	chr7:57895070-57895120	GM06990	blood:	n/a
6	chr7:57895070-57895120	IMR90	lung:	fetal
7	chr7:57895070-57895120	HRCEpiC	kidney:	n/a
8	chr7:57896675-57896725	AG04449	skin:	fetal
9	chr7:57895070-57895120	AoSMC	blood vessel:	n/a
10	chr7:57896675-57896725	A549	lung:	n/a
11	chr7:57895070-57895120	HIPEpiC	eye:	n/a
12	chr7:57896675-57896725	HCPEpiC	choroid plexus:	n/a
13	chr7:57896675-57896725	HUVEC	blood vessel:	n/a
14	chr7:57896675-57896725	CMK	blood:	n/a
15	chr7:57896675-57896725	GM19239	blood:	n/a
16	chr7:57896675-57896725	U87	brain:	n/a
17	chr7:57895070-57895120	HUVEC	blood vessel:	n/a
18	chr7:57895070-57895120	Jurkat	blood:	n/a
19	chr7:57895070-57895120	HMEC	breast:	n/a
20	chr7:57896675-57896725	K562	blood:	n/a
21	chr7:57896675-57896725	HNPCEpiC	eye:	n/a
22	chr7:57896675-57896725	AG10803	skin:	n/a
23	chr7:57896675-57896725	LNCaP	prostate:	n/a
24	chr7:57895070-57895120	Hela-S3	cervix:	n/a
25	chr7:57895070-57895120	HNPCEpiC	eye:	n/a
26	chr7:57895070-57895120	AG04449	skin:	fetal
27	chr7:57896675-57896725	HAEpiC	amniotic membrane:	n/a
28	chr7:57895070-57895120	HRE	kidney:	n/a
29	chr7:57895070-57895120	ovcar-3	ovarian:	n/a
30	chr7:57895070-57895120	BJ	skin:	n/a
31	chr7:57896675-57896725	GM12891	blood:	n/a
32	chr7:57896675-57896725	ECC-1	luminal epithelium:	n/a
33	chr7:57895070-57895120	ProgFib	skin:	n/a
34	chr7:57896675-57896725	PFSK-1	brain:	n/a
35	chr7:57895070-57895120	HepG2	liver:	n/a
36	chr7:57895070-57895120	NH-A	brain:	n/a
37	chr7:57895070-57895120	AG10803	skin:	n/a
38	chr7:57896675-57896725	MCF10A-Er-Src	breast:	n/a
39	chr7:57895070-57895120	AG04450	lung:	fetal
40	chr7:57896675-57896725	HRCEpiC	kidney:	n/a
41	chr7:57895070-57895120	T-47D	breast:	n/a
42	chr7:57896675-57896725	SK-N-MC	brain:	n/a
43	chr7:57896675-57896725	NHBE	bronchial:	n/a
44	chr7:57895070-57895120	GM12891	blood:	n/a
45	chr7:57895070-57895120	HL-60	blood:	n/a
46	chr7:57895070-57895120	MCF-7	breast:	n/a
47	chr7:57896675-57896725	HMEC	breast:	n/a
48	chr7:57896675-57896725	NT2-D1	testis:	n/a
49	chr7:57895070-57895120	AG09319	gingival:	n/a
50	chr7:57895070-57895120	A549	lung:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-24	chr7:57896673-57896752	NONHSAT120882
2	lnc-ZNF716-24	chr7:57894964-57895190	NONHSAT120882
3	lnc-ZNF479-16	chr7:57882150-57882506	NONHSAT120880
4	lnc-ZNF716-24	chr7:57888037-57888136	NONHSAT120882

No data

Variant related genes	Relation type
ENSG00000231484	TF binding region
ENSG00000231232	TF binding region
ENSG00000271696	TF binding region
ENSG00000236907	TF binding region
ENSG00000223836	TF binding region
ENSG00000231484	CpG island
ENSG00000231232	CpG island
ENSG00000271696	CpG island
ENSG00000236907	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 437 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79721559	chr7:57881963-57881964	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs530269543	chr7:57881967-57881968	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs75676966	chr7:57881969-57881970	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs200540232	chr7:57881972-57881973	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs76731354	chr7:57881977-57881978	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs548002692	chr7:57881980-57881981	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs566528554	chr7:57881981-57881982	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs527365465	chr7:57881984-57881985	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs79716172	chr7:57881985-57881986	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs78925517	chr7:57881987-57881988	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs75927319	chr7:57881994-57881995	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs74199582	chr7:57881995-57881996	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs76020479	chr7:57882008-57882009	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs77338848	chr7:57882010-57882011	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs77491417	chr7:57882015-57882016	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs78382207	chr7:57882019-57882020	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs111380698	chr7:57882020-57882021	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs79983803	chr7:57882026-57882027	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs570452697	chr7:57882035-57882036	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs150097056	chr7:57882044-57882045	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs117357099	chr7:57882063-57882064	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs568183207	chr7:57882064-57882065	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs72501650	chr7:57882067-57882068	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs74406751	chr7:57882070-57882071	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs77120504	chr7:57882077-57882078	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs79781016	chr7:57882079-57882080	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs72501651	chr7:57882080-57882081	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs553667080	chr7:57882086-57882087	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs72501652	chr7:57882095-57882096	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs200501866	chr7:57882106-57882107	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs573025761	chr7:57882114-57882115	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs549489989	chr7:57882148-57882149	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs62459354	chr7:57882151-57882152	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs62459355	chr7:57882160-57882161	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs62459356	chr7:57882170-57882171	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs534027404	chr7:57882174-57882175	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs34496859	chr7:57882176-57882177	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs71065165	chr7:57882177-57882178	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs569704497	chr7:57882178-57882179	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs558570625	chr7:57882182-57882183	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs72501653	chr7:57882189-57882190	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs398004907	chr7:57882197-57882198	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs201714461	chr7:57882198-57882199	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs576787737	chr7:57882211-57882212	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs113621531	chr7:57882212-57882213	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs199654869	chr7:57882219-57882220	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs563169616	chr7:57882235-57882236	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs574951363	chr7:57882241-57882242	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs542445127	chr7:57882249-57882250	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs560648042	chr7:57882258-57882259	ZNF genes & repeats	TF binding region lncRNA	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:11 , 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	chr7:57885400-57885800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:57885400-57886600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:57885400-57886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:57885400-57886800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:57885800-57886800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr7:57886000-57886400	ZNF genes & repeats	Esophagus	oesophagus
8	chr7:57886000-57886400	ZNF genes & repeats	Pancreas	Pancrea
9	chr7:57886000-57886600	ZNF genes & repeats	Gastric	stomach
10	chr7:57886000-57886800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:57886200-57886800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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