Variant report

Variant	esv3347347
Chromosome Location	chr7:6906027-6912725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:6911365-6911638	GM12878	blood:	n/a	n/a
2	BATF	chr7:6911459-6911623	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:6912527-6912646	HepG2	liver:	n/a	n/a
4	CTCF	chr7:6911533-6911668	GM12891	blood:	n/a	n/a
5	CTCF	chr7:6911545-6911700	GM12878	blood:	n/a	n/a
6	CTCF	chr7:6911534-6911710	HepG2	liver:	n/a	n/a
7	CTCF	chr7:6911547-6911638	GM19239	blood:	n/a	n/a
8	CTCF	chr7:6911056-6911130	GM20000	blood:	n/a	n/a
9	CTCF	chr7:6911606-6911624	GM10248	blood:	n/a	n/a
10	CTCF	chr7:6911507-6911677	GM12892	blood:	n/a	n/a
11	CTCF	chr7:6911487-6911673	K562	blood:	n/a	n/a
12	CTCF	chr7:6911541-6911662	NHEK	skin:	n/a	n/a
13	CTCF	chr7:6911501-6911599	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:6911564-6911634	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:6911495-6911696	GM12878	blood:	n/a	n/a
16	CTCF	chr7:6911460-6911610	GM12871	blood:	n/a	n/a
17	CTCF	chr7:6911625-6911669	GM10266	blood:	n/a	n/a
18	CTCF	chr7:6911496-6911773	K562	blood:	n/a	n/a
19	CTCF	chr7:6911561-6911663	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:6911509-6911662	GM19240	blood:	n/a	n/a
21	CTCF	chr7:6911542-6911650	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:6911533-6911657	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:6911400-6911550	NHEK	skin:	n/a	n/a
24	CTCF	chr7:6911494-6911676	GM19238	blood:	n/a	n/a
25	CTCF	chr7:6911420-6911570	HMEC	breast:	n/a	n/a
26	CTCF	chr7:6911559-6911712	K562	blood:	n/a	n/a
27	CTCF	chr7:6911538-6911673	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:6911740-6911890	GM12873	blood:	n/a	n/a
29	FOS	chr7:6911520-6911670	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr7:6911488-6911707	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:6911198-6911275	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:6911500-6911688	MCF10A-Er-Src	breast:	n/a	n/a
33	FOSL2	chr7:6911405-6911721	HepG2	liver:	n/a	n/a
34	FOXA1	chr7:6911517-6911980	HepG2	liver:	n/a	n/a
35	HEY1	chr7:6912130-6912403	HepG2	liver:	n/a	n/a
36	HNF4A	chr7:6912184-6912434	HepG2	liver:	n/a	chr7:6912373-6912388
37	HNF4A	chr7:6912189-6912428	HepG2	liver:	n/a	chr7:6912373-6912388
38	HNF4G	chr7:6912199-6912494	HepG2	liver:	n/a	chr7:6912372-6912387
39	JUND	chr7:6912215-6912416	HepG2	liver:	n/a	n/a
40	MYBL2	chr7:6912150-6912695	HepG2	liver:	n/a	n/a
41	MYC	chr7:6911145-6911385	MCF-7	breast:	n/a	n/a
42	MYC	chr7:6911186-6911288	MCF-7	breast:	n/a	n/a
43	RAD21	chr7:6911419-6911631	GM12878	blood:	n/a	n/a
44	RELA	chr7:6911485-6911744	GM12891	blood:	n/a	n/a
45	SP1	chr7:6912109-6912636	HepG2	liver:	n/a	n/a
46	SP1	chr7:6911554-6911951	HepG2	liver:	n/a	n/a
47	YY1	chr7:6912108-6912486	HepG2	liver:	n/a	n/a
48	ZNF217	chr7:6911240-6911420	MCF-7	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6911051-6911101	PrEC	prostate:	n/a
2	chr7:6909188-6909238	AG09319	gingival:	n/a
3	chr7:6909188-6909238	AG09309	skin:	n/a
4	chr7:6910741-6910791	GM12878	blood:	n/a
5	chr7:6911051-6911101	IMR90	lung:	fetal
6	chr7:6909121-6909171	SK-N-SH_RA	brain:	n/a
7	chr7:6909121-6909171	GM12878	blood:	n/a
8	chr7:6911211-6911261	HNPCEpiC	eye:	n/a
9	chr7:6910871-6910921	PFSK-1	brain:	n/a
10	chr7:6911051-6911101	AG09319	gingival:	n/a
11	chr7:6910741-6910791	NT2-D1	testis:	n/a
12	chr7:6910741-6910791	NB4	blood:	n/a
13	chr7:6911051-6911101	BE2_C	brain:	n/a
14	chr7:6909121-6909171	IMR90	lung:	fetal
15	chr7:6911211-6911261	U87	brain:	n/a
16	chr7:6909188-6909238	Hela-S3	cervix:	n/a
17	chr7:6910871-6910921	MCF10A-Er-Src	breast:	n/a
18	chr7:6911051-6911101	NH-A	brain:	n/a
19	chr7:6911051-6911101	AoSMC	blood vessel:	n/a
20	chr7:6910871-6910921	BJ	skin:	n/a
21	chr7:6910741-6910791	AG04449	skin:	fetal
22	chr7:6909188-6909238	A549	lung:	n/a
23	chr7:6910871-6910921	PrEC	prostate:	n/a
24	chr7:6910741-6910791	HEK293	kidney:	embryo
25	chr7:6909188-6909238	H1-hESC	embryonic stem cell:	embryo
26	chr7:6910741-6910791	HCPEpiC	choroid plexus:	n/a
27	chr7:6910871-6910921	T-47D	breast:	n/a
28	chr7:6911211-6911261	NB4	blood:	n/a
29	chr7:6911051-6911101	ovcar-3	ovarian:	n/a
30	chr7:6909121-6909171	HUVEC	blood vessel:	n/a
31	chr7:6910871-6910921	HepG2	liver:	n/a
32	chr7:6911051-6911101	MCF-7	breast:	n/a
33	chr7:6911211-6911261	BJ	skin:	n/a
34	chr7:6910741-6910791	AG09319	gingival:	n/a
35	chr7:6910871-6910921	AG04450	lung:	fetal
36	chr7:6909121-6909171	Jurkat	blood:	n/a
37	chr7:6910871-6910921	SK-N-SH_RA	brain:	n/a
38	chr7:6910871-6910921	HMEC	breast:	n/a
39	chr7:6911051-6911101	PANC-1	pancreas:	n/a
40	chr7:6909188-6909238	SAEC	small airway:	n/a
41	chr7:6909121-6909171	AG10803	skin:	n/a
42	chr7:6910741-6910791	HNPCEpiC	eye:	n/a
43	chr7:6909121-6909171	GM12891	blood:	n/a
44	chr7:6910741-6910791	HCF	heart:	n/a
45	chr7:6909188-6909238	HCF	heart:	n/a
46	chr7:6911051-6911101	RPTEC	kidney:	n/a
47	chr7:6911051-6911101	A549	lung:	n/a
48	chr7:6910871-6910921	HIPEpiC	eye:	n/a
49	chr7:6911051-6911101	HRPEpiC	eye:	n/a
50	chr7:6910741-6910791	AG10803	skin:	n/a

No data

Variant related genes	Relation type
OR7E136P	TF binding region
OR7E136P	CpG island

Extended variants
information (count: 185 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187640619	chr7:6909132-6909133	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs144642273	chr7:6909188-6909189	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs532274683	chr7:6909203-6909204	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs192459749	chr7:6909223-6909224	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs186375100	chr7:6910749-6910750	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs577074005	chr7:6910754-6910755	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs182788225	chr7:6910755-6910756	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs187500114	chr7:6910756-6910757	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs561723232	chr7:6910758-6910759	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs71543803	chr7:6910760-6910761	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs73674187	chr7:6910810-6910811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559405512	chr7:6910825-6910826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533659847	chr7:6910833-6910834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565805390	chr7:6910860-6910861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536054842	chr7:6910863-6910864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192307685	chr7:6910884-6910885	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs147292321	chr7:6910895-6910896	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs531053138	chr7:6910899-6910900	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs183888376	chr7:6910906-6910907	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs567376245	chr7:6910929-6910930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534813819	chr7:6910935-6910936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188778849	chr7:6910936-6910937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141026434	chr7:6910943-6910944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539700390	chr7:6910949-6910950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192613343	chr7:6910953-6910954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184405796	chr7:6910954-6910955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569808597	chr7:6910969-6910970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533692062	chr7:6910970-6910971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10231708	chr7:6910984-6910985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115044787	chr7:6911002-6911003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541161507	chr7:6911007-6911008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558596765	chr7:6911022-6911023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559368962	chr7:6911027-6911028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371746433	chr7:6911039-6911040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545675296	chr7:6911042-6911043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188287526	chr7:6911069-6911070	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs34601496	chr7:6911077-6911078	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184135335	chr7:6911080-6911081	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs35719605	chr7:6911082-6911083	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558804130	chr7:6911099-6911100	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs113805474	chr7:6911103-6911104	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181565764	chr7:6911123-6911124	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs144887884	chr7:6911125-6911126	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571615654	chr7:6911168-6911169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538613277	chr7:6911178-6911179	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187265134	chr7:6911193-6911194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569821499	chr7:6911195-6911196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs151323941	chr7:6911203-6911204	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534550601	chr7:6911206-6911207	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372143541	chr7:6911211-6911212	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6910800-6911200	Enhancers	Stomach Mucosa	stomach
2	chr7:6910800-6911200	Enhancers	NHEK	skin
3	chr7:6910800-6911600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:6910800-6914000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:6911200-6912400	Weak transcription	Stomach Mucosa	stomach
6	chr7:6911400-6913600	Enhancers	Fetal Intestine Small	intestine
7	chr7:6911800-6913000	Enhancers	HepG2	liver
8	chr7:6912400-6912800	Enhancers	Fetal Intestine Large	intestine
9	chr7:6912400-6912800	Enhancers	Stomach Mucosa	stomach

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