Variant report

Variant	nsv551647
Chromosome Location	chr10:82878488-82917110
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	ATF2	chr10:82895543-82895942	GM12878	blood:	n/a	n/a
2	BACH1	chr10:82916984-82917015	K562	blood:	n/a	n/a
3	BATF	chr10:82895654-82895926	GM12878	blood:	n/a	n/a
4	BHLHE40	chr10:82895658-82895896	GM12878	blood:	n/a	n/a
5	BRCA1	chr10:82884551-82884624	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr10:82913079-82913302	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr10:82895631-82895969	GM12878	blood:	n/a	n/a
8	CREB1	chr10:82895628-82895890	GM12878	blood:	n/a	n/a
9	CTCF	chr10:82894460-82894610	GM06990	blood:	n/a	n/a
10	CTCF	chr10:82902860-82903010	NHEK	skin:	n/a	n/a
11	CTCF	chr10:82895740-82895890	GM12873	blood:	n/a	n/a
12	CTCF	chr10:82895600-82895750	GM12872	blood:	n/a	chr10:82895708-82895717
13	CTCF	chr10:82894460-82894610	GM12865	blood:	n/a	n/a
14	CTCF	chr10:82895620-82895770	GM12866	blood:	n/a	chr10:82895708-82895717
15	CTCF	chr10:82904815-82904923	Lung_OC	lung:	n/a	n/a
16	CTCF	chr10:82913182-82913234	GM10248	blood:	n/a	n/a
17	CTCF	chr10:82895680-82895830	GM06990	blood:	n/a	chr10:82895708-82895717
18	CTCF	chr10:82890453-82890486	GM10266	blood:	n/a	n/a
19	CTCF	chr10:82895600-82895750	GM12865	blood:	n/a	chr10:82895708-82895717
20	CUX1	chr10:82893830-82893912	GM12878	blood:	n/a	n/a
21	E2F4	chr10:82892549-82893048	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr10:82895642-82896037	GM12878	blood:	n/a	n/a
23	ELK1	chr10:82895724-82895800	GM12878	blood:	n/a	n/a
24	EP300	chr10:82895621-82896003	GM12878	blood:	n/a	chr10:82895825-82895839
25	EP300	chr10:82895647-82895973	GM12878	blood:	n/a	chr10:82895825-82895839
26	EP300	chr10:82895631-82896019	GM12878	blood:	n/a	chr10:82895825-82895839
27	FAM48A	chr10:82908867-82908998	GM12878	blood:	n/a	n/a
28	FOS	chr10:82901295-82901489	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr10:82901294-82901440	MCF10A-Er-Src	breast:	n/a	n/a
30	GATA3	chr10:82893540-82893672	SH-SY5Y	brain:	n/a	n/a
31	MAFF	chr10:82909675-82909966	HepG2	liver:	n/a	n/a
32	MAFF	chr10:82909693-82909958	K562	blood:	n/a	n/a
33	MAFF	chr10:82881750-82881858	HepG2	liver:	n/a	chr10:82881797-82881815
34	MAFK	chr10:82909703-82909823	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAFK	chr10:82909648-82909942	HepG2	liver:	n/a	chr10:82909816-82909831
36	MAFK	chr10:82881711-82881960	HepG2	liver:	n/a	chr10:82881799-82881815 chr10:82881798-82881812 chr10:82881799-82881810 chr10:82881799-82881814 chr10:82881799-82881810 chr10:82881800-82881811
37	MAFK	chr10:82909659-82909986	HepG2	liver:	n/a	chr10:82909816-82909831
38	MAFK	chr10:82881646-82881900	HepG2	liver:	n/a	chr10:82881799-82881815 chr10:82881798-82881812 chr10:82881799-82881810 chr10:82881799-82881814 chr10:82881799-82881810 chr10:82881800-82881811
39	MAFK	chr10:82914808-82914897	HepG2	liver:	n/a	n/a
40	MAFK	chr10:82909660-82909973	IMR90	lung:	n/a	chr10:82909816-82909831
41	MAX	chr10:82887705-82888002	NB4	blood:	n/a	chr10:82887834-82887841 chr10:82887829-82887844 chr10:82887833-82887843 chr10:82887833-82887843 chr10:82887831-82887844 chr10:82887832-82887843 chr10:82887833-82887842 chr10:82887832-82887843 chr10:82887833-82887842 chr10:82887831-82887844 chr10:82887832-82887841 chr10:82887832-82887842
42	MAZ	chr10:82895709-82896021	GM12878	blood:	n/a	n/a
43	MXI1	chr10:82895683-82895797	GM12878	blood:	n/a	n/a
44	MXI1	chr10:82906749-82906768	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFIC	chr10:82895475-82896006	GM12878	blood:	n/a	n/a
46	PAX5	chr10:82895661-82895863	GM12878	blood:	n/a	n/a
47	POLR2A	chr10:82880720-82880739	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:82899639-82899726	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:82888864-82888866	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr10:82899633-82899637	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:82878597..82880359-chr10:82893517..82895398,2	MCF-7	breast:
2	chr10:82876080..82878187-chr10:82881616..82883439,2	MCF-7	breast:
3	chr10:82878597..82880359-chr10:82893517..82895398,2	MCF-7	breast:

Variant related genes	Relation type
RPA2P2	TF binding region
ENSG00000265990	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 62 )

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	rs555107166	chr10:82879626-82879627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572003395	chr10:82879648-82879649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534548556	chr10:82879649-82879650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386526	chr10:82879688-82879689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183435487	chr10:82879707-82879708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs379800	chr10:82879719-82879720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571334730	chr10:82879761-82879762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187098074	chr10:82879772-82879773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576496807	chr10:82879782-82879783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559625077	chr10:82895404-82895405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375341463	chr10:82895437-82895438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10786248	chr10:82895519-82895520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551529591	chr10:82895525-82895526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12569513	chr10:82895545-82895546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191442475	chr10:82895559-82895560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182534843	chr10:82895564-82895565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531207045	chr10:82895602-82895603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72308544	chr10:82895606-82895607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59352367	chr10:82895609-82895610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377456077	chr10:82895663-82895664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35038485	chr10:82895701-82895702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12248044	chr10:82895790-82895791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs957921	chr10:82895802-82895803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146902316	chr10:82895816-82895817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553519188	chr10:82895830-82895831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572895043	chr10:82895837-82895838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538726583	chr10:82895841-82895842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34230442	chr10:82895886-82895887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558185326	chr10:82895893-82895894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574907097	chr10:82895894-82895895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186965667	chr10:82895988-82895989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542395096	chr10:82895993-82895994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567907146	chr10:82896060-82896061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386745827	chr10:82896165-82896166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112392463	chr10:82896195-82896196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574372193	chr10:82896212-82896213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373454334	chr10:82896254-82896255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36075874	chr10:82896274-82896275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540093927	chr10:82896320-82896321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543086069	chr10:82896443-82896444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560861198	chr10:82896457-82896458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374660617	chr10:82896479-82896480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551861214	chr10:82896481-82896482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565344989	chr10:82896484-82896485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563273134	chr10:82896507-82896508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199741520	chr10:82896551-82896552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191331543	chr10:82896563-82896564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77514490	chr10:82896639-82896640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567994032	chr10:82896686-82896687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72824826	chr10:82896717-82896718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:82879600-82879800	Enhancers	Aorta	Aorta
2	chr10:82895400-82896800	Enhancers	GM12878-XiMat	blood
3	chr10:82912000-82912400	Enhancers	Fetal Lung	lung

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