Variant report

Variant	esv3517354
Chromosome Location	chr7:6911027-6924325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:611)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:6911459-6911623	GM12878	blood:	n/a	n/a
2	BATF	chr7:6911365-6911638	GM12878	blood:	n/a	n/a
3	BCL3	chr7:6916434-6916785	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:6914862-6914979	K562	blood:	n/a	n/a
5	CEBPB	chr7:6912527-6912646	HepG2	liver:	n/a	n/a
6	CTCF	chr7:6911509-6911662	GM19240	blood:	n/a	n/a
7	CTCF	chr7:6911487-6911673	K562	blood:	n/a	n/a
8	CTCF	chr7:6911494-6911676	GM19238	blood:	n/a	n/a
9	CTCF	chr7:6911606-6911624	GM10248	blood:	n/a	n/a
10	CTCF	chr7:6911545-6911700	GM12878	blood:	n/a	n/a
11	CTCF	chr7:6911533-6911657	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:6911056-6911130	GM20000	blood:	n/a	n/a
13	CTCF	chr7:6911541-6911662	NHEK	skin:	n/a	n/a
14	CTCF	chr7:6911740-6911890	GM12873	blood:	n/a	n/a
15	CTCF	chr7:6911495-6911696	GM12878	blood:	n/a	n/a
16	CTCF	chr7:6911564-6911634	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:6911507-6911677	GM12892	blood:	n/a	n/a
18	CTCF	chr7:6911533-6911668	GM12891	blood:	n/a	n/a
19	CTCF	chr7:6911542-6911650	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:6911400-6911550	NHEK	skin:	n/a	n/a
21	CTCF	chr7:6911501-6911599	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:6911547-6911638	GM19239	blood:	n/a	n/a
23	CTCF	chr7:6911534-6911710	HepG2	liver:	n/a	n/a
24	CTCF	chr7:6911561-6911663	MCF-7	breast:	n/a	n/a
25	CTCF	chr7:6911496-6911773	K562	blood:	n/a	n/a
26	CTCF	chr7:6911420-6911570	HMEC	breast:	n/a	n/a
27	CTCF	chr7:6911559-6911712	K562	blood:	n/a	n/a
28	CTCF	chr7:6911625-6911669	GM10266	blood:	n/a	n/a
29	CTCF	chr7:6911460-6911610	GM12871	blood:	n/a	n/a
30	CTCF	chr7:6911538-6911673	MCF-7	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	FOS	chr7:6911488-6911707	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:6911520-6911670	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr7:6911405-6911721	HepG2	liver:	n/a	n/a
36	FOSL2	chr7:6913744-6914123	HepG2	liver:	n/a	chr7:6913918-6913929
37	FOSL2	chr7:6913703-6914121	HepG2	liver:	n/a	chr7:6913918-6913929
38	FOXA1	chr7:6911517-6911980	HepG2	liver:	n/a	n/a
39	FOXA1	chr7:6913802-6914357	HepG2	liver:	n/a	n/a
40	HEY1	chr7:6912130-6912403	HepG2	liver:	n/a	n/a
41	HNF4A	chr7:6912189-6912428	HepG2	liver:	n/a	chr7:6912373-6912388
42	HNF4A	chr7:6912184-6912434	HepG2	liver:	n/a	chr7:6912373-6912388
43	HNF4G	chr7:6912199-6912494	HepG2	liver:	n/a	chr7:6912372-6912387
44	JUND	chr7:6912215-6912416	HepG2	liver:	n/a	n/a
45	JUND	chr7:6913826-6914043	HepG2	liver:	n/a	n/a
46	JUND	chr7:6913870-6913984	HepG2	liver:	n/a	n/a
47	MAFF	chr7:6922881-6922953	HepG2	liver:	n/a	n/a
48	MYBL2	chr7:6912150-6912695	HepG2	liver:	n/a	n/a
49	MYC	chr7:6911145-6911385	MCF-7	breast:	n/a	n/a
50	MYC	chr7:6911186-6911288	MCF-7	breast:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6915894-6915944	NB4	blood:	n/a
2	chr7:6915894-6915944	NB4	blood:	n/a
3	chr7:6915373-6915423	PrEC	prostate:	n/a
4	chr7:6911051-6911101	IMR90	lung:	fetal
5	chr7:6915508-6915558	Hepatocyte	liver:	n/a
6	chr7:6911211-6911261	NT2-D1	testis:	n/a
7	chr7:6914498-6914548	AoSMC	blood vessel:	n/a
8	chr7:6915373-6915423	HEEpiC	esophagus:	n/a
9	chr7:6921561-6921611	HNPCEpiC	eye:	n/a
10	chr7:6914289-6914339	HRE	kidney:	n/a
11	chr7:6915508-6915558	HRPEpiC	eye:	n/a
12	chr7:6911211-6911261	HIPEpiC	eye:	n/a
13	chr7:6915508-6915558	T-47D	breast:	n/a
14	chr7:6915508-6915558	SK-N-SH	brain:	n/a
15	chr7:6916089-6916139	HMEC	breast:	n/a
16	chr7:6916089-6916139	T-47D	breast:	n/a
17	chr7:6915373-6915423	H1-hESC	embryonic stem cell:	embryo
18	chr7:6914498-6914548	HEK293	kidney:	embryo
19	chr7:6916089-6916139	ovcar-3	ovarian:	n/a
20	chr7:6914498-6914548	HCF	heart:	n/a
21	chr7:6915894-6915944	AoSMC	blood vessel:	n/a
22	chr7:6915508-6915558	HUVEC	blood vessel:	n/a
23	chr7:6915508-6915558	GM12878	blood:	n/a
24	chr7:6914289-6914339	H1-hESC	embryonic stem cell:	embryo
25	chr7:6915928-6915978	H1-hESC	embryonic stem cell:	embryo
26	chr7:6921561-6921611	IMR90	lung:	fetal
27	chr7:6914498-6914548	MCF-7	breast:	n/a
28	chr7:6915508-6915558	HMEC	breast:	n/a
29	chr7:6915894-6915944	HCM	heart:	n/a
30	chr7:6915928-6915978	A549	lung:	n/a
31	chr7:6915508-6915558	HRE	kidney:	n/a
32	chr7:6911211-6911261	LNCaP	prostate:	n/a
33	chr7:6915373-6915423	HCT-116	colon:	n/a
34	chr7:6915508-6915558	SAEC	small airway:	n/a
35	chr7:6915508-6915558	AG04450	lung:	fetal
36	chr7:6921561-6921611	BE2_C	brain:	n/a
37	chr7:6911211-6911261	AG04450	lung:	fetal
38	chr7:6921561-6921611	Hela-S3	cervix:	n/a
39	chr7:6915508-6915558	HCF	heart:	n/a
40	chr7:6914289-6914339	U87	brain:	n/a
41	chr7:6915373-6915423	Hela-S3	cervix:	n/a
42	chr7:6915508-6915558	PANC-1	pancreas:	n/a
43	chr7:6921561-6921611	U87	brain:	n/a
44	chr7:6915894-6915944	A549	lung:	n/a
45	chr7:6911051-6911101	AG04449	skin:	fetal
46	chr7:6911051-6911101	AG09309	skin:	n/a
47	chr7:6915373-6915423	HCM	heart:	n/a
48	chr7:6914289-6914339	HAEpiC	amniotic membrane:	n/a
49	chr7:6915928-6915978	NT2-D1	testis:	n/a
50	chr7:6921561-6921611	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
OR7E136P	TF binding region
ENSG00000263457	TF binding region
OR7E59P	TF binding region
OR7E136P	CpG island
ENSG00000263457	CpG island
OR7E59P	CpG island

Extended variants
information (count: 725 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559368962	chr7:6911027-6911028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371746433	chr7:6911039-6911040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545675296	chr7:6911042-6911043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188287526	chr7:6911069-6911070	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs34601496	chr7:6911077-6911078	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184135335	chr7:6911080-6911081	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs35719605	chr7:6911082-6911083	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558804130	chr7:6911099-6911100	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs113805474	chr7:6911103-6911104	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181565764	chr7:6911123-6911124	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144887884	chr7:6911125-6911126	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571615654	chr7:6911168-6911169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538613277	chr7:6911178-6911179	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187265134	chr7:6911193-6911194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569821499	chr7:6911195-6911196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs151323941	chr7:6911203-6911204	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534550601	chr7:6911206-6911207	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372143541	chr7:6911211-6911212	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs574552332	chr7:6911212-6911213	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs112265207	chr7:6911219-6911220	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs573908973	chr7:6911224-6911225	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs541124741	chr7:6911228-6911229	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs139278849	chr7:6911230-6911231	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs190458538	chr7:6911240-6911241	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs557240495	chr7:6911246-6911247	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs563318855	chr7:6911248-6911249	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs575499595	chr7:6911254-6911255	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs10228947	chr7:6911256-6911257	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs561126819	chr7:6911261-6911262	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs528710993	chr7:6911266-6911267	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372779387	chr7:6911277-6911278	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565184444	chr7:6911279-6911280	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182542530	chr7:6911324-6911325	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550665578	chr7:6911339-6911340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185878070	chr7:6911342-6911343	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10275812	chr7:6911345-6911346	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549344177	chr7:6911352-6911353	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561163539	chr7:6911365-6911366	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573173038	chr7:6911381-6911382	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145255430	chr7:6911393-6911394	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112525329	chr7:6911410-6911411	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs540402306	chr7:6911417-6911418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567538662	chr7:6911443-6911444	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141283172	chr7:6911448-6911449	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs111906123	chr7:6911449-6911450	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182631573	chr7:6911503-6911504	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185731914	chr7:6911504-6911505	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542913500	chr7:6911516-6911517	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111396544	chr7:6911538-6911539	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146713320	chr7:6911550-6911551	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:28 , 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
10	chr7:6913000-6913600	Weak transcription	HepG2	liver
11	chr7:6913400-6913800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:6913400-6914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:6913600-6913800	Enhancers	HepG2	liver
14	chr7:6913600-6914800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:6914000-6914400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:6914400-6915000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:6921000-6923000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:6921400-6922600	Enhancers	NH-A	brain
19	chr7:6921400-6922800	Enhancers	HSMM	muscle
20	chr7:6921400-6923000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:6921600-6922200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:6921600-6923000	Enhancers	HSMMtube	muscle
23	chr7:6922000-6922200	Enhancers	Osteobl	bone
24	chr7:6922200-6922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:6922200-6922600	Flanking Active TSS	Osteobl	bone
26	chr7:6922600-6922800	Enhancers	Osteobl	bone
27	chr7:6922600-6927600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:6923000-6927800	Weak transcription	HSMMtube	muscle

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