Variant report

Variant	nsv467218
Chromosome Location	chr10:56084933-56132046
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	BACH1	chr10:56123236-56123565	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:56123241-56123554	K562	blood:	n/a	n/a
3	CEBPB	chr10:56106935-56106999	H1-hESC	embryonic stem cell:	n/a	chr10:56106957-56106970
4	CEBPB	chr10:56122448-56122536	HepG2	liver:	n/a	chr10:56122474-56122485
5	CTCF	chr10:56128880-56129030	HepG2	liver:	n/a	n/a
6	CTCF	chr10:56128820-56128970	RPTEC	kidney:	n/a	n/a
7	CTCF	chr10:56128900-56129050	GM12873	blood:	n/a	n/a
8	CTCF	chr10:56128946-56128966	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr10:56128888-56128995	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:56128880-56129030	HMF	breast:	n/a	n/a
11	CTCF	chr10:56085800-56085950	Caco-2	colon:	n/a	n/a
12	CTCF	chr10:56128860-56129010	HEK293	kidney:	n/a	n/a
13	CTCF	chr10:56128860-56129010	BE2_C	brain:	n/a	n/a
14	CTCF	chr10:56128891-56129015	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:56128880-56129030	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:56128900-56129050	Caco-2	colon:	n/a	n/a
17	CTCF	chr10:56128940-56129090	BE2_C	brain:	n/a	n/a
18	CTCF	chr10:56108080-56108230	Caco-2	colon:	n/a	n/a
19	CTCF	chr10:56128700-56128850	BE2_C	brain:	n/a	n/a
20	EP300	chr10:56113415-56113429	K562	blood:	n/a	n/a
21	EP300	chr10:56131540-56132643	SK-N-SH	brain:	n/a	chr10:56132479-56132493
22	EP300	chr10:56131959-56132363	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr10:56131970-56132315	SK-N-SH_RA	brain:	n/a	n/a
24	ESR1	chr10:56131907-56132312	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr10:56131921-56132208	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr10:56131883-56132350	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr10:56131878-56132411	ECC-1	luminal epithelium:	n/a	n/a
28	ESR1	chr10:56131982-56132192	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr10:56097475-56097667	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr10:56105207-56105545	HUVEC	blood vessel:	n/a	chr10:56105351-56105362
31	FOS	chr10:56123266-56123551	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr10:56123240-56123556	MCF10A-Er-Src	breast:	n/a	n/a
33	GATA2	chr10:56131441-56132378	SH-SY5Y	brain:	n/a	chr10:56131486-56131502 chr10:56131486-56131502 chr10:56131483-56131504 chr10:56131489-56131499
34	GATA3	chr10:56122913-56123129	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr10:56131823-56132413	MCF-7	breast:	n/a	n/a
36	GATA3	chr10:56131930-56132352	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr10:56087821-56087974	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr10:56131295-56132419	SH-SY5Y	brain:	n/a	chr10:56131486-56131502 chr10:56131486-56131502 chr10:56131483-56131504 chr10:56131489-56131499
39	GATA3	chr10:56112114-56112292	SH-SY5Y	brain:	n/a	n/a
40	JUN	chr10:56122104-56122236	K562	blood:	n/a	n/a
41	JUND	chr10:56097459-56097659	HepG2	liver:	n/a	chr10:56097529-56097540
42	KAP1	chr10:56101787-56102425	HEK293	kidney:	n/a	n/a
43	MAFF	chr10:56123104-56123581	HepG2	liver:	n/a	chr10:56123283-56123301
44	MAFF	chr10:56123120-56123557	K562	blood:	n/a	chr10:56123283-56123301
45	MAFF	chr10:56116327-56116574	HepG2	liver:	n/a	n/a
46	MAFF	chr10:56088227-56088393	HepG2	liver:	n/a	n/a
47	MAFK	chr10:56123111-56123578	HepG2	liver:	n/a	chr10:56123284-56123299
48	MAFK	chr10:56088173-56088493	HepG2	liver:	n/a	chr10:56088316-56088327 chr10:56088315-56088330 chr10:56088315-56088331 chr10:56088314-56088328 chr10:56088315-56088326 chr10:56088315-56088326
49	MAFK	chr10:56123134-56123549	H1-hESC	embryonic stem cell:	n/a	chr10:56123284-56123299
50	MAFK	chr10:56123105-56123576	IMR90	lung:	n/a	chr10:56123284-56123299

Variant related genes	Relation type
ENSG00000263921	TF binding region

Extended variants
information (count: 385 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2096173	chr10:56096002-56096003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193034254	chr10:56096026-56096027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375403399	chr10:56096060-56096061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367766388	chr10:56096098-56096099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554263270	chr10:56096139-56096140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568010324	chr10:56096146-56096147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533788360	chr10:56096158-56096159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554082746	chr10:56096161-56096162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138297567	chr10:56096178-56096179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143830175	chr10:56096185-56096186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556364109	chr10:56096207-56096208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1592178	chr10:56096208-56096209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544648372	chr10:56096212-56096213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2891515	chr10:56096231-56096232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530001814	chr10:56096238-56096239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1592179	chr10:56096240-56096241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543379408	chr10:56096243-56096244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113169437	chr10:56096261-56096262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2891516	chr10:56096280-56096281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185194679	chr10:56096294-56096295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189224366	chr10:56096345-56096346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4454622	chr10:56096358-56096359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548236294	chr10:56096362-56096363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568186265	chr10:56096364-56096365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533751544	chr10:56096393-56096394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553840289	chr10:56096403-56096404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181926575	chr10:56096404-56096405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570751016	chr10:56096424-56096425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558449324	chr10:56096428-56096429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111580286	chr10:56096434-56096435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183544666	chr10:56096456-56096457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35737171	chr10:56096505-56096506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535305445	chr10:56096513-56096514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554615181	chr10:56096536-56096537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188330288	chr10:56096582-56096583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369392086	chr10:56096589-56096590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540216957	chr10:56096603-56096604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181233158	chr10:56096661-56096662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577462922	chr10:56096694-56096695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373456767	chr10:56096743-56096744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546428448	chr10:56096752-56096753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574575280	chr10:56096801-56096802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563047080	chr10:56096826-56096827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186328204	chr10:56096830-56096831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537735667	chr10:56096842-56096843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112256569	chr10:56096852-56096853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561753877	chr10:56096859-56096860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34501484	chr10:56096870-56096871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374217392	chr10:56096871-56096872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527426195	chr10:56096873-56096874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56096000-56097800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:56097600-56098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:56097800-56098400	Active TSS	Primary hematopoietic stem cells	blood
4	chr10:56097800-56099000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:56097800-56099000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:56098200-56098600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:56098200-56098600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:56098200-56098800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:56098200-56099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:56098400-56098600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr10:56098400-56099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:56098600-56099000	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:56098600-56099000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:56098600-56101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:56101000-56102800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr10:56101400-56102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:56101400-56102800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr10:56102000-56102200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:56102000-56102600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:56102000-56102600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:56102000-56102800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr10:56102000-56103200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:56131400-56132200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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