Variant report

Variant	esv1793156
Chromosome Location	chr7:11584813-11595992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:11592811-11592812	Lung_OC	lung:	n/a	n/a
2	CTCF	chr7:11592745-11592808	Lung_OC	lung:	n/a	n/a
3	CTCF	chr7:11586801-11586852	LNCaP	prostate:	n/a	n/a
4	E2F4	chr7:11586815-11586903	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr7:11588143-11588332	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:11588117-11588596	MCF10A-Er-Src	breast:	n/a	chr7:11588345-11588356
7	FOS	chr7:11588124-11588554	MCF10A-Er-Src	breast:	n/a	chr7:11588345-11588356
8	FOS	chr7:11588091-11588470	HUVEC	blood vessel:	n/a	chr7:11588345-11588356
9	FOS	chr7:11586667-11586772	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:11588117-11588588	MCF10A-Er-Src	breast:	n/a	chr7:11588345-11588356
11	FOS	chr7:11588107-11588597	MCF10A-Er-Src	breast:	n/a	chr7:11588345-11588356
12	FOS	chr7:11586560-11586737	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr7:11586581-11586844	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr7:11592366-11592603	T-47D	breast:	n/a	n/a
15	FOXA1	chr7:11592340-11592606	T-47D	breast:	n/a	n/a
16	GATA3	chr7:11591123-11591365	SH-SY5Y	brain:	n/a	n/a
17	MYC	chr7:11595721-11595947	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr7:11585778-11585884	MCF-7	breast:	n/a	n/a
19	MYC	chr7:11585784-11585920	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:11585447-11585655	Gliobla	brain:	n/a	n/a
21	POLR2A	chr7:11593030-11593117	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr7:11585867-11585928	A549	lung:	n/a	n/a
23	POLR2A	chr7:11585790-11585936	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:11590094-11590265	ProgFib	skin:	n/a	n/a
25	POLR2A	chr7:11590174-11590208	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:11588133-11588517	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr7:11585743-11585933	MCF-7	breast:	n/a	n/a
28	STAT3	chr7:11588087-11588447	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr7:11588080-11588456	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr7:11593926-11593957	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr7:11587921-11588338	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:11588115-11588450	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr7:11588102-11588534	MCF10A-Er-Src	breast:	n/a	n/a
34	WRNIP1	chr7:11592293-11592427	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 571 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10241518	chr7:11584813-11584814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551442580	chr7:11584872-11584873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192247039	chr7:11584908-11584909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5027108	chr7:11584909-11584910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142163733	chr7:11584957-11584958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549819540	chr7:11584972-11584973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544392057	chr7:11585003-11585004	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143105571	chr7:11585007-11585008	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7455869	chr7:11585009-11585010	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565665254	chr7:11585015-11585016	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7458209	chr7:11585035-11585036	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570379995	chr7:11585048-11585049	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562749475	chr7:11585098-11585099	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184037260	chr7:11585108-11585109	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186877253	chr7:11585115-11585116	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537601199	chr7:11585142-11585143	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375991091	chr7:11585146-11585147	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151157214	chr7:11585190-11585191	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79135711	chr7:11585196-11585197	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115403320	chr7:11585207-11585208	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386710314	chr7:11585228-11585229	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10271276	chr7:11585230-11585231	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565001681	chr7:11585232-11585233	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117214650	chr7:11585240-11585241	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549998502	chr7:11585269-11585270	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78738590	chr7:11585396-11585397	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191468859	chr7:11585406-11585407	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140102969	chr7:11585411-11585412	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548984302	chr7:11585419-11585420	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182939156	chr7:11585426-11585427	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565702085	chr7:11585427-11585428	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186863969	chr7:11585429-11585430	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62432854	chr7:11585435-11585436	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76446577	chr7:11585441-11585442	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62432855	chr7:11585450-11585451	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs62432856	chr7:11585463-11585464	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191697776	chr7:11585485-11585486	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112270145	chr7:11585527-11585528	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536978814	chr7:11585539-11585540	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553361207	chr7:11585595-11585596	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs572914072	chr7:11585601-11585602	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150288391	chr7:11585602-11585603	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs67541992	chr7:11585619-11585620	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575376418	chr7:11585627-11585628	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs55	chr7:11585628-11585629	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs137871099	chr7:11585684-11585685	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529051240	chr7:11585717-11585718	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542924369	chr7:11585736-11585737	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182199582	chr7:11585752-11585753	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62432857	chr7:11585765-11585766	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
2	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
3	chr7:11582400-11585800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:11582800-11585400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:11582800-11595000	Weak transcription	Fetal Kidney	kidney
6	chr7:11582800-11598600	Weak transcription	Fetal Lung	lung
7	chr7:11585000-11586000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:11585400-11586000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr7:11585800-11586200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr7:11586000-11590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:11586200-11592200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:11587400-11588400	Enhancers	HUVEC	blood vessel
13	chr7:11592400-11592800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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