Variant report

Variant	esv3420596
Chromosome Location	chr7:57883010-57925508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:185)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57924008-57924207	GM12878	blood:	n/a	chr7:57924188-57924197
2	BCL11A	chr7:57918662-57918918	GM12878	blood:	n/a	n/a
3	CTCF	chr7:57915620-57915770	AG10803	skin:	n/a	n/a
4	CTCF	chr7:57894413-57894427	Medullo	brain:	n/a	n/a
5	CTCF	chr7:57886700-57886850	NHLF	lung:	n/a	n/a
6	CTCF	chr7:57918180-57918330	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
8	CTCF	chr7:57912953-57913042	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:57918140-57918290	AG10803	skin:	n/a	n/a
10	EBF1	chr7:57918238-57918417	GM12878	blood:	n/a	n/a
11	EBF1	chr7:57923928-57924208	GM12878	blood:	n/a	n/a
12	EBF1	chr7:57921936-57922183	GM12878	blood:	n/a	n/a
13	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
14	EP300	chr7:57914896-57915088	GM12878	blood:	n/a	n/a
15	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
16	EP300	chr7:57923853-57924265	GM12878	blood:	n/a	n/a
17	EP300	chr7:57914870-57915093	GM12878	blood:	n/a	n/a
18	EP300	chr7:57918253-57918410	GM12878	blood:	n/a	n/a
19	EP300	chr7:57921761-57922256	GM12878	blood:	n/a	chr7:57922008-57922016
20	EP300	chr7:57918264-57918460	GM12878	blood:	n/a	n/a
21	EP300	chr7:57921272-57921491	GM12878	blood:	n/a	n/a
22	FOSL2	chr7:57918148-57918473	HepG2	liver:	n/a	n/a
23	FOSL2	chr7:57899967-57900292	HepG2	liver:	n/a	n/a
24	FOSL2	chr7:57906943-57907196	HepG2	liver:	n/a	n/a
25	FOSL2	chr7:57905346-57905642	HepG2	liver:	n/a	n/a
26	FOSL2	chr7:57900673-57901027	HepG2	liver:	n/a	n/a
27	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
28	FOSL2	chr7:57899633-57899890	HepG2	liver:	n/a	n/a
29	FOSL2	chr7:57921321-57921586	HepG2	liver:	n/a	n/a
30	FOSL2	chr7:57894013-57894257	HepG2	liver:	n/a	n/a
31	FOSL2	chr7:57889953-57890257	HepG2	liver:	n/a	n/a
32	FOSL2	chr7:57914872-57915090	HepG2	liver:	n/a	n/a
33	FOSL2	chr7:57887938-57888425	HepG2	liver:	n/a	n/a
34	FOSL2	chr7:57921845-57922186	HepG2	liver:	n/a	n/a
35	FOSL2	chr7:57897382-57898171	HepG2	liver:	n/a	n/a
36	FOXA1	chr7:57917979-57918454	HepG2	liver:	n/a	n/a
37	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
38	FOXA1	chr7:57916475-57916769	HepG2	liver:	n/a	n/a
39	FOXA1	chr7:57922992-57923419	HepG2	liver:	n/a	n/a
40	GABPA	chr7:57887987-57888364	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr7:57918221-57918425	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr7:57923926-57924228	K562	blood:	n/a	n/a
43	GATA3	chr7:57918106-57918305	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:57886145-57886626	MCF-7	breast:	n/a	n/a
45	IRF4	chr7:57918162-57918455	GM12878	blood:	n/a	n/a
46	IRF4	chr7:57888181-57888618	GM12878	blood:	n/a	n/a
47	IRF4	chr7:57921858-57922187	GM12878	blood:	n/a	n/a
48	IRF4	chr7:57923865-57924241	GM12878	blood:	n/a	n/a
49	JUND	chr7:57905469-57905625	HepG2	liver:	n/a	n/a
50	JUND	chr7:57904664-57904842	HepG2	liver:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57896675-57896725	AG09309	skin:	n/a
2	chr7:57896675-57896725	BJ	skin:	n/a
3	chr7:57896675-57896725	AG09309	skin:	n/a
4	chr7:57896675-57896725	BJ	skin:	n/a
5	chr7:57895070-57895120	U87	brain:	n/a
6	chr7:57924074-57924124	PFSK-1	brain:	n/a
7	chr7:57896675-57896725	NHBE	bronchial:	n/a
8	chr7:57896675-57896725	PANC-1	pancreas:	n/a
9	chr7:57895070-57895120	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:57896675-57896725	U87	brain:	n/a
11	chr7:57924074-57924124	PrEC	prostate:	n/a
12	chr7:57896675-57896725	ovcar-3	ovarian:	n/a
13	chr7:57895070-57895120	NB4	blood:	n/a
14	chr7:57895070-57895120	AG04450	lung:	fetal
15	chr7:57924074-57924124	K562	blood:	n/a
16	chr7:57924074-57924124	AoSMC	blood vessel:	n/a
17	chr7:57896675-57896725	Hepatocyte	liver:	n/a
18	chr7:57924074-57924124	AG10803	skin:	n/a
19	chr7:57895070-57895120	HCF	heart:	n/a
20	chr7:57896675-57896725	H1-hESC	embryonic stem cell:	embryo
21	chr7:57924074-57924124	HCM	heart:	n/a
22	chr7:57895070-57895120	AoSMC	blood vessel:	n/a
23	chr7:57895070-57895120	HRCEpiC	kidney:	n/a
24	chr7:57895070-57895120	GM19239	blood:	n/a
25	chr7:57896675-57896725	NB4	blood:	n/a
26	chr7:57924074-57924124	HRPEpiC	eye:	n/a
27	chr7:57895070-57895120	HL-60	blood:	n/a
28	chr7:57896675-57896725	LNCaP	prostate:	n/a
29	chr7:57924074-57924124	GM12891	blood:	n/a
30	chr7:57924074-57924124	SK-N-MC	brain:	n/a
31	chr7:57924074-57924124	HRCEpiC	kidney:	n/a
32	chr7:57896675-57896725	Jurkat	blood:	n/a
33	chr7:57896675-57896725	SK-N-SH	brain:	n/a
34	chr7:57895070-57895120	HEEpiC	esophagus:	n/a
35	chr7:57924074-57924124	HRE	kidney:	n/a
36	chr7:57896675-57896725	SAEC	small airway:	n/a
37	chr7:57895070-57895120	SKMC	muscle:	n/a
38	chr7:57895070-57895120	SK-N-SH	brain:	n/a
39	chr7:57924074-57924124	HEK293	kidney:	embryo
40	chr7:57924074-57924124	HCF	heart:	n/a
41	chr7:57895070-57895120	HRE	kidney:	n/a
42	chr7:57895070-57895120	NHDF-neo	bronchial:	n/a
43	chr7:57895070-57895120	AG09309	skin:	n/a
44	chr7:57896675-57896725	A549	lung:	n/a
45	chr7:57924074-57924124	NH-A	brain:	n/a
46	chr7:57896675-57896725	HCM	heart:	n/a
47	chr7:57896675-57896725	GM12878	blood:	n/a
48	chr7:57924074-57924124	HL-60	blood:	n/a
49	chr7:57895070-57895120	PANC-1	pancreas:	n/a
50	chr7:57895070-57895120	K562	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-24	chr7:57888037-57888136	NONHSAT120882
2	lnc-ZNF716-24	chr7:57894964-57895190	NONHSAT120882
3	lnc-ZNF716-24	chr7:57896673-57896752	NONHSAT120882

No data

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

Extended variants
information (count: 521 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536148928	chr7:57883017-57883018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554477232	chr7:57883022-57883023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377418811	chr7:57883064-57883065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371046876	chr7:57883073-57883074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188269246	chr7:57883077-57883078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541667946	chr7:57883079-57883080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546452160	chr7:57883100-57883101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs202056437	chr7:57883106-57883107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78388266	chr7:57883125-57883126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76806699	chr7:57883134-57883135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200794513	chr7:57883164-57883165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73697629	chr7:57883171-57883172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181792098	chr7:57883184-57883185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543140208	chr7:57883190-57883191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201761419	chr7:57883197-57883198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200136875	chr7:57883204-57883205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184762479	chr7:57883211-57883212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200907990	chr7:57883213-57883214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561736608	chr7:57883216-57883217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376178166	chr7:57883236-57883237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189800528	chr7:57883267-57883268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77988356	chr7:57883268-57883269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528839415	chr7:57883279-57883280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76820362	chr7:57883292-57883293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79286038	chr7:57883295-57883296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79540288	chr7:57883296-57883297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74784268	chr7:57883300-57883301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79081000	chr7:57883302-57883303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540950739	chr7:57883307-57883308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs181863966	chr7:57883311-57883312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533042925	chr7:57883325-57883326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551191053	chr7:57883333-57883334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75910372	chr7:57883351-57883352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75757616	chr7:57883362-57883363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77979536	chr7:57883368-57883369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138249533	chr7:57883369-57883370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77503244	chr7:57883370-57883371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186935461	chr7:57883372-57883373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77162804	chr7:57884889-57884890	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs529733362	chr7:57884908-57884909	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs77612199	chr7:57884913-57884914	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs548256066	chr7:57884923-57884924	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs76812911	chr7:57884937-57884938	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs190820199	chr7:57884963-57884964	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs566467048	chr7:57884970-57884971	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs2315985	chr7:57884986-57884987	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs113815120	chr7:57884989-57884990	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs200268059	chr7:57884990-57884991	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs78983081	chr7:57885002-57885003	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs183076447	chr7:57885010-57885011	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 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
12	chr7:57917400-57918000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:57917800-57918400	Active TSS	Fetal Heart	heart
14	chr7:57918200-57918400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
15	chr7:57918200-57918800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr7:57925000-57925400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr7:57925400-57927000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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