Variant report

Variant	nsv520903
Chromosome Location	chr7:7328775-7330581
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	chr7:7329518-7329576	GM20000	blood:	n/a	n/a
2	CTCF	chr7:7330460-7330610	HepG2	liver:	n/a	chr7:7330546-7330556
3	CTCF	chr7:7330460-7330610	Caco-2	colon:	n/a	chr7:7330546-7330556
4	CTCF	chr7:7330520-7330594	LNCaP	prostate:	n/a	chr7:7330546-7330556
5	CTCF	chr7:7330420-7330570	RPTEC	kidney:	n/a	chr7:7330546-7330556
6	CTCF	chr7:7330507-7330598	MCF-7	breast:	n/a	chr7:7330546-7330556
7	CTCF	chr7:7330474-7330630	K562	blood:	n/a	chr7:7330546-7330556
8	CTCF	chr7:7330352-7330746	MCF-7	breast:	n/a	chr7:7330546-7330556
9	CTCF	chr7:7330520-7330670	Caco-2	colon:	n/a	chr7:7330546-7330556
10	CTCF	chr7:7330486-7330636	HepG2	liver:	n/a	chr7:7330546-7330556
11	CTCF	chr7:7330460-7330610	Hela-S3	cervix:	n/a	chr7:7330546-7330556
12	CTCF	chr7:7330502-7330676	GM12878	blood:	n/a	chr7:7330546-7330556
13	CTCF	chr7:7330450-7330607	HepG2	liver:	n/a	chr7:7330546-7330556
14	CTCF	chr7:7330524-7330601	MCF-7	breast:	n/a	chr7:7330546-7330556
15	CTCF	chr7:7330497-7330622	Hela-S3	cervix:	n/a	chr7:7330546-7330556
16	CTCF	chr7:7330440-7330590	K562	blood:	n/a	chr7:7330546-7330556
17	CTCF	chr7:7330404-7330717	K562	blood:	n/a	chr7:7330546-7330556
18	GATA3	chr7:7330432-7330568	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr7:7330424-7330676	MCF-7	breast:	n/a	n/a
20	GATA3	chr7:7330304-7330768	MCF-7	breast:	n/a	n/a
21	NR2F2	chr7:7330356-7330712	K562	blood:	n/a	n/a
22	NR2F2	chr7:7330359-7330863	MCF-7	breast:	n/a	n/a
23	NR2F2	chr7:7330381-7330689	HepG2	liver:	n/a	n/a
24	NR2F2	chr7:7330402-7330770	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:7329567-7329746	MCF-7	breast:	n/a	n/a
26	RAD21	chr7:7330358-7330759	HepG2	liver:	n/a	chr7:7330544-7330557
27	RAD21	chr7:7330423-7330651	HepG2	liver:	n/a	chr7:7330544-7330557
28	RAD21	chr7:7330422-7330690	Hela-S3	cervix:	n/a	chr7:7330544-7330557
29	RAD21	chr7:7330446-7330668	HepG2	liver:	n/a	chr7:7330544-7330557
30	SMC3	chr7:7330454-7330626	Hela-S3	cervix:	n/a	chr7:7330545-7330559
31	SMC3	chr7:7330413-7330696	HepG2	liver:	n/a	chr7:7330545-7330559
32	ZNF384	chr7:7330394-7330591	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7322726..7325575-chr7:7329256..7331422,2	MCF-7	breast:
2	chr7:7318004..7320924-chr7:7330269..7333078,2	K562	blood:

Variant related genes	Relation type
ENSG00000236712	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386709923	chr7:7328775-7328776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115203095	chr7:7328776-7328777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112550538	chr7:7328784-7328785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181626470	chr7:7328791-7328792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186099618	chr7:7328841-7328842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531615799	chr7:7328865-7328866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549842308	chr7:7328890-7328891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10257131	chr7:7328897-7328898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530087634	chr7:7328901-7328902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548617213	chr7:7328937-7328938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566640054	chr7:7328940-7328941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36066792	chr7:7328947-7328948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191013112	chr7:7328963-7328964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556988489	chr7:7328973-7328974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10238967	chr7:7328997-7328998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148188987	chr7:7329025-7329026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571475638	chr7:7329115-7329116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539063378	chr7:7329125-7329126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557695223	chr7:7329170-7329171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538970661	chr7:7329181-7329182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541466900	chr7:7329234-7329235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572642284	chr7:7329236-7329237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183532572	chr7:7329244-7329245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73676813	chr7:7329252-7329253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185263458	chr7:7329290-7329291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564259789	chr7:7329293-7329294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531448029	chr7:7329303-7329304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543699177	chr7:7329341-7329342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563902749	chr7:7329342-7329343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530070162	chr7:7329374-7329375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548198826	chr7:7329388-7329389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146301294	chr7:7329400-7329401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191150108	chr7:7329429-7329430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560141743	chr7:7329461-7329462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182664187	chr7:7329469-7329470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553178208	chr7:7329470-7329471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552292239	chr7:7329481-7329482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570705380	chr7:7329494-7329495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531152675	chr7:7329507-7329508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141680880	chr7:7329528-7329529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7779267	chr7:7329539-7329540	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6463667	chr7:7329540-7329541	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553782920	chr7:7329542-7329543	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534961076	chr7:7329543-7329544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539532450	chr7:7329561-7329562	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547019701	chr7:7329572-7329573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375315425	chr7:7329575-7329576	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs6463668	chr7:7329583-7329584	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576139919	chr7:7329591-7329592	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs57433974	chr7:7329593-7329594	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
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
T-cell lymphomas	22341440	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7320000-7332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:7322600-7332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:7329800-7330800	Enhancers	HepG2	liver
4	chr7:7329800-7335000	Enhancers	Liver	Liver

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