Variant report

Variant	nsv947788
Chromosome Location	chr10:27600482-27607267
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	CEBPB	chr10:27600676-27600841	K562	blood:	n/a	n/a
2	CEBPB	chr10:27601912-27602036	HepG2	liver:	n/a	chr10:27601959-27601970
3	CEBPB	chr10:27601941-27601990	K562	blood:	n/a	chr10:27601959-27601970
4	CEBPB	chr10:27604158-27604375	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr10:27603470-27603519	GM13976	blood:	n/a	n/a
6	CTCF	chr10:27602689-27602760	ProgFib	skin:	n/a	n/a
7	FOS	chr10:27604149-27604339	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr10:27604150-27604351	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr10:27604158-27604283	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr10:27602985-27603134	HepG2	liver:	n/a	n/a
11	MYC	chr10:27600969-27601008	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:27606597-27606624	GM12878	blood:	n/a	n/a
13	STAT3	chr10:27604328-27604362	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr10:27604154-27604286	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr10:27604112-27604336	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-666P	TF binding region

Extended variants
information (count: 215 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564654494	chr10:27600646-27600647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578085184	chr10:27600649-27600650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543917160	chr10:27600659-27600660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563584453	chr10:27600669-27600670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559585016	chr10:27600744-27600745	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372740726	chr10:27600777-27600778	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528496570	chr10:27600788-27600789	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548954467	chr10:27600797-27600798	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548176382	chr10:27600850-27600851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191428622	chr10:27600876-27600877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144353671	chr10:27600897-27600898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374673044	chr10:27600908-27600909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568256121	chr10:27600924-27600925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77672877	chr10:27600937-27600938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs61849720	chr10:27600954-27600955	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183564342	chr10:27600961-27600962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546685080	chr10:27601617-27601618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566495931	chr10:27601620-27601621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12247140	chr10:27601629-27601630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191077424	chr10:27601683-27601684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138993705	chr10:27601695-27601696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11015691	chr10:27601717-27601718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs534644088	chr10:27601723-27601724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373164478	chr10:27601735-27601736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182209237	chr10:27601745-27601746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542725405	chr10:27601763-27601764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114304284	chr10:27601857-27601858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186856478	chr10:27601870-27601871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544994324	chr10:27601880-27601881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191707197	chr10:27601949-27601950	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530694956	chr10:27601953-27601954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112092534	chr10:27601976-27601977	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200353527	chr10:27601999-27602000	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34400888	chr10:27602000-27602001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201033919	chr10:27602009-27602010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186485745	chr10:27602690-27602691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543172255	chr10:27602691-27602692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563359604	chr10:27602698-27602699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544200384	chr10:27602718-27602719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576999904	chr10:27602736-27602737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs193097316	chr10:27602753-27602754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143688703	chr10:27602988-27602989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567613119	chr10:27603000-27603001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs1780087	chr10:27603099-27603100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs536496486	chr10:27603115-27603116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185078787	chr10:27603117-27603118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201311378	chr10:27603124-27603125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11015692	chr10:27603483-27603484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs182186115	chr10:27603834-27603835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554979293	chr10:27603838-27603839	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27600600-27601000	Active TSS	Placenta	Placenta
2	chr10:27601600-27602000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:27601800-27602000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:27603800-27605000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:27605000-27608000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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