Variant report

Variant	esv1806939
Chromosome Location	chr7:57028771-57072359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:369)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57067681-57067700	GM10248	blood:	n/a	n/a
2	CTCF	chr7:57029197-57029205	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr7:57048077-57048116	GM20000	blood:	n/a	n/a
4	CTCF	chr7:57047345-57047417	GM10266	blood:	n/a	chr7:57047357-57047370
5	CTCF	chr7:57069500-57069650	WERI-Rb-1	eye:	n/a	chr7:57069570-57069579 chr7:57069603-57069612 chr7:57069546-57069564 chr7:57069564-57069582
6	CTCF	chr7:57068210-57068270	GM20000	blood:	n/a	n/a
7	CTCF	chr7:57041022-57041039	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:57066312-57066418	Lung_OC	lung:	n/a	n/a
9	CTCF	chr7:57033177-57033221	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr7:57029207-57029260	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr7:57061860-57061982	GM13976	blood:	n/a	n/a
12	CTCF	chr7:57057291-57057380	GM20000	blood:	n/a	n/a
13	FOXA1	chr7:57042463-57043047	HepG2	liver:	n/a	n/a
14	MYC	chr7:57056943-57056977	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr7:57052887-57052947	GM12878	blood:	n/a	n/a
16	MYC	chr7:57060232-57060241	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr7:57040330-57040369	GM12878	blood:	n/a	n/a
18	MYC	chr7:57061561-57061581	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr7:57060301-57060350	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr7:57061593-57061647	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:57037394-57037428	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:57061976-57062037	K562	blood:	n/a	n/a
23	POLR2A	chr7:57035430-57035471	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:57032249-57032396	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:57063675-57063698	MCF-7	breast:	n/a	n/a
26	RXRA	chr7:57042569-57042945	HepG2	liver:	n/a	n/a
27	SP1	chr7:57042618-57043058	HepG2	liver:	n/a	n/a
28	TCF12	chr7:57042614-57042872	HepG2	liver:	n/a	n/a
29	USF1	chr7:57034521-57034623	HepG2	liver:	n/a	chr7:57034573-57034584
30	USF1	chr7:57052700-57052879	HepG2	liver:	n/a	n/a

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57071676-57071726	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:57069946-57069996	BJ	skin:	n/a
3	chr7:57072283-57072333	PANC-1	pancreas:	n/a
4	chr7:57071676-57071726	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:57069946-57069996	BJ	skin:	n/a
6	chr7:57072283-57072333	PANC-1	pancreas:	n/a
7	chr7:57071509-57071559	HCF	heart:	n/a
8	chr7:57069946-57069996	GM12891	blood:	n/a
9	chr7:57071509-57071559	U87	brain:	n/a
10	chr7:57071041-57071091	HCM	heart:	n/a
11	chr7:57071041-57071091	HUVEC	blood vessel:	n/a
12	chr7:57071041-57071091	HRE	kidney:	n/a
13	chr7:57069946-57069996	AG09319	gingival:	n/a
14	chr7:57071041-57071091	H1-hESC	embryonic stem cell:	embryo
15	chr7:57071041-57071091	BE2_C	brain:	n/a
16	chr7:57072283-57072333	HRPEpiC	eye:	n/a
17	chr7:57072233-57072283	GM12878	blood:	n/a
18	chr7:57072233-57072283	Hela-S3	cervix:	n/a
19	chr7:57069946-57069996	HAEpiC	amniotic membrane:	n/a
20	chr7:57071509-57071559	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:57071509-57071559	BE2_C	brain:	n/a
22	chr7:57071676-57071726	BE2_C	brain:	n/a
23	chr7:57072283-57072333	BE2_C	brain:	n/a
24	chr7:57071676-57071726	Jurkat	blood:	n/a
25	chr7:57071509-57071559	GM19239	blood:	n/a
26	chr7:57072233-57072283	NH-A	brain:	n/a
27	chr7:57071041-57071091	HCF	heart:	n/a
28	chr7:57072233-57072283	SK-N-MC	brain:	n/a
29	chr7:57071676-57071726	BJ	skin:	n/a
30	chr7:57072283-57072333	HEK293	kidney:	embryo
31	chr7:57072233-57072283	AG04449	skin:	fetal
32	chr7:57069946-57069996	HepG2	liver:	n/a
33	chr7:57071676-57071726	K562	blood:	n/a
34	chr7:57071041-57071091	Jurkat	blood:	n/a
35	chr7:57072233-57072283	MCF10A-Er-Src	breast:	n/a
36	chr7:57071041-57071091	HCPEpiC	choroid plexus:	n/a
37	chr7:57072233-57072283	LNCaP	prostate:	n/a
38	chr7:57072283-57072333	AG10803	skin:	n/a
39	chr7:57071041-57071091	Hepatocyte	liver:	n/a
40	chr7:57072283-57072333	ProgFib	skin:	n/a
41	chr7:57071509-57071559	Hela-S3	cervix:	n/a
42	chr7:57071676-57071726	NHDF-neo	bronchial:	n/a
43	chr7:57072283-57072333	NB4	blood:	n/a
44	chr7:57071509-57071559	H1-hESC	embryonic stem cell:	embryo
45	chr7:57072283-57072333	HMEC	breast:	n/a
46	chr7:57072283-57072333	Caco-2	colon:	n/a
47	chr7:57072233-57072283	BE2_C	brain:	n/a
48	chr7:57071676-57071726	GM12891	blood:	n/a
49	chr7:57072233-57072283	ovcar-3	ovarian:	n/a
50	chr7:57071041-57071091	SK-N-SH	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-25	chr7:57032955-57033214	NONHSAT120806

No data

Variant related genes	Relation type
RN7SL816P	TF binding region
TNRC18P3	TF binding region
RN7SL816P	CpG island
TNRC18P3	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59990275	chr7:57029200-57029201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs59212716	chr7:57029215-57029216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373239545	chr7:57032293-57032294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560136029	chr7:57032306-57032307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376528629	chr7:57032322-57032323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369513890	chr7:57032349-57032350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533651779	chr7:57032354-57032355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs544710909	chr7:57032383-57032384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563258648	chr7:57032384-57032385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200071192	chr7:57033027-57033028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373941422	chr7:57033119-57033120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs112833539	chr7:57061433-57061434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs367600364	chr7:57061444-57061445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147337803	chr7:57061500-57061501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139351282	chr7:57061510-57061511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540440227	chr7:57061511-57061512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2947981	chr7:57061551-57061552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200612589	chr7:57061570-57061571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537262592	chr7:57061571-57061572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150513075	chr7:57061617-57061618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564900408	chr7:57061623-57061624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs185069211	chr7:57061624-57061625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189450507	chr7:57061644-57061645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192430084	chr7:57061658-57061659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184406115	chr7:57061661-57061662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189025236	chr7:57061662-57061663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549377395	chr7:57061663-57061664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181468976	chr7:57061669-57061670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112053192	chr7:57061674-57061675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528542194	chr7:57061708-57061709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79516812	chr7:57061721-57061722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571710699	chr7:57061733-57061734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538838281	chr7:57061737-57061738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550910433	chr7:57061754-57061755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569187769	chr7:57061756-57061757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183806045	chr7:57061760-57061761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188968939	chr7:57061765-57061766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553224800	chr7:57061773-57061774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181537575	chr7:57061782-57061783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186452671	chr7:57061800-57061801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57061400-57061800	ZNF genes & repeats	Pancreas	Pancrea

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