Variant report

Variant	nsv563830
Chromosome Location	chr14:20445768-20487364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr14:20450329-20450560	K562	blood:	n/a	n/a
2	CEBPB	chr14:20470519-20470853	K562	blood:	n/a	chr14:20470615-20470626
3	CEBPB	chr14:20470476-20470862	A549	lung:	n/a	chr14:20470615-20470626
4	CEBPB	chr14:20470478-20470832	HepG2	liver:	n/a	chr14:20470615-20470626
5	CEBPB	chr14:20470509-20470786	IMR90	lung:	n/a	chr14:20470615-20470626
6	CEBPZ	chr14:20471063-20471214	HepG2	liver:	n/a	n/a
7	CTCF	chr14:20476780-20476930	HCFaa	heart:	n/a	n/a
8	CTCF	chr14:20470690-20470696	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:20451391-20451461	LNCaP	prostate:	n/a	n/a
10	CTCF	chr14:20470706-20470783	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:20461564-20461626	GM20000	blood:	n/a	n/a
12	CTCF	chr14:20470679-20470680	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:20470860-20471010	GM12869	blood:	n/a	n/a
14	CTCF	chr14:20470701-20470702	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:20455546-20455631	GM20000	blood:	n/a	n/a
16	CTCF	chr14:20462863-20462913	LNCaP	prostate:	n/a	n/a
17	CUX1	chr14:20466351-20466408	GM12878	blood:	n/a	n/a
18	E2F4	chr14:20450196-20450245	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr14:20474448-20474584	K562	blood:	n/a	n/a
20	FOS	chr14:20471718-20471829	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:20450185-20450187	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:20470586-20470686	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr14:20450178-20450263	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr14:20450038-20450270	HepG2	liver:	n/a	n/a
25	GATA3	chr14:20479410-20479810	MCF-7	breast:	n/a	chr14:20479560-20479569
26	JUND	chr14:20471625-20471727	HepG2	liver:	n/a	chr14:20471648-20471659
27	KAP1	chr14:20450189-20450540	K562	blood:	n/a	n/a
28	KAP1	chr14:20482340-20482670	K562	blood:	n/a	n/a
29	MAFF	chr14:20466937-20467086	K562	blood:	n/a	n/a
30	MAFF	chr14:20466922-20467156	HepG2	liver:	n/a	n/a
31	MAFK	chr14:20466923-20467159	HepG2	liver:	n/a	n/a
32	MYC	chr14:20482638-20482678	MCF-7	breast:	n/a	n/a
33	MYC	chr14:20473978-20474096	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr14:20472163-20472233	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr14:20466605-20466751	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr14:20476872-20476880	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr14:20448802-20448903	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:20470693-20470800	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:20470642-20470791	A549	lung:	n/a	n/a
40	SETDB1	chr14:20482404-20482657	U2OS	brain:	n/a	n/a
41	STAT3	chr14:20458986-20459012	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr14:20447044-20447195	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr14:20464668-20464818	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20482899-20482949	HEEpiC	esophagus:	n/a
2	chr14:20482899-20482949	RPTEC	kidney:	n/a
3	chr14:20482899-20482949	AG10803	skin:	n/a
4	chr14:20482899-20482949	A549	lung:	n/a
5	chr14:20482899-20482949	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:20482899-20482949	Caco-2	colon:	n/a
7	chr14:20482899-20482949	HUVEC	blood vessel:	n/a
8	chr14:20482899-20482949	IMR90	lung:	fetal
9	chr14:20482899-20482949	AG09309	skin:	n/a
10	chr14:20482899-20482949	NH-A	brain:	n/a
11	chr14:20482899-20482949	ovcar-3	ovarian:	n/a
12	chr14:20482899-20482949	Jurkat	blood:	n/a
13	chr14:20482899-20482949	ECC-1	luminal epithelium:	n/a
14	chr14:20482899-20482949	GM12878	blood:	n/a
15	chr14:20482899-20482949	NHBE	bronchial:	n/a
16	chr14:20482899-20482949	Hela-S3	cervix:	n/a
17	chr14:20482899-20482949	LNCaP	prostate:	n/a
18	chr14:20482899-20482949	U87	brain:	n/a
19	chr14:20482899-20482949	GM06990	blood:	n/a
20	chr14:20482899-20482949	HAEpiC	amniotic membrane:	n/a
21	chr14:20482899-20482949	HRPEpiC	eye:	n/a
22	chr14:20482899-20482949	HCM	heart:	n/a
23	chr14:20482899-20482949	HCF	heart:	n/a
24	chr14:20482899-20482949	HEK293	kidney:	embryo
25	chr14:20482899-20482949	Hepatocyte	liver:	n/a
26	chr14:20482899-20482949	BJ	skin:	n/a
27	chr14:20482899-20482949	CMK	blood:	n/a
28	chr14:20482899-20482949	AG04450	lung:	fetal
29	chr14:20482899-20482949	MCF10A-Er-Src	breast:	n/a
30	chr14:20482899-20482949	AG09319	gingival:	n/a
31	chr14:20482899-20482949	K562	blood:	n/a
32	chr14:20482899-20482949	HepG2	liver:	n/a
33	chr14:20482899-20482949	AG04449	skin:	fetal
34	chr14:20482899-20482949	SK-N-SH	brain:	n/a
35	chr14:20482899-20482949	SKMC	muscle:	n/a
36	chr14:20482899-20482949	PANC-1	pancreas:	n/a
37	chr14:20482899-20482949	AoSMC	blood vessel:	n/a
38	chr14:20482899-20482949	HCT-116	colon:	n/a
39	chr14:20482899-20482949	HL-60	blood:	n/a
40	chr14:20482899-20482949	MCF-7	breast:	n/a
41	chr14:20482899-20482949	BE2_C	brain:	n/a
42	chr14:20482899-20482949	T-47D	breast:	n/a
43	chr14:20482899-20482949	HRE	kidney:	n/a
44	chr14:20482899-20482949	HMEC	breast:	n/a
45	chr14:20482899-20482949	GM19239	blood:	n/a
46	chr14:20482899-20482949	SK-N-SH_RA	brain:	n/a
47	chr14:20482899-20482949	NT2-D1	testis:	n/a
48	chr14:20482899-20482949	HIPEpiC	eye:	n/a
49	chr14:20482899-20482949	GM12892	blood:	n/a
50	chr14:20482899-20482949	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:20453392..20455779-chr14:20560575..20562246,2	K562	blood:
2	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:
3	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:

No data

Variant related genes	Relation type
OR4K14	TF binding region
OR4Q2	TF binding region
OR4K14	CpG island
OR4Q2	CpG island
ENSG00000258641	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3928337	chr14:20445768-20445769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541738103	chr14:20445770-20445771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573452196	chr14:20445783-20445784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540799834	chr14:20445804-20445805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529067244	chr14:20445814-20445815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7150745	chr14:20445845-20445846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34896701	chr14:20445902-20445903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7149721	chr14:20445905-20445906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544601098	chr14:20445908-20445909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567872763	chr14:20445951-20445952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562740031	chr14:20445967-20445968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7145945	chr14:20445995-20445996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148740138	chr14:20445996-20445997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192028679	chr14:20448821-20448822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184221678	chr14:20448836-20448837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371269369	chr14:20448955-20448956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs72667627	chr14:20448964-20448965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577899023	chr14:20448966-20448967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374297720	chr14:20453392-20453393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184901646	chr14:20453401-20453402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530515129	chr14:20453416-20453417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1974320	chr14:20453427-20453428	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190148792	chr14:20453461-20453462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529571142	chr14:20453471-20453472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370496332	chr14:20453508-20453509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548089985	chr14:20453510-20453511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566206933	chr14:20453517-20453518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539831090	chr14:20453553-20453554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551441415	chr14:20453556-20453557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570210875	chr14:20453607-20453608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537534052	chr14:20453633-20453634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182487599	chr14:20453663-20453664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573861514	chr14:20453718-20453719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71410206	chr14:20453722-20453723	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553249555	chr14:20453762-20453763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116458917	chr14:20453766-20453767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545033993	chr14:20453774-20453775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7153356	chr14:20453792-20453793	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575027730	chr14:20453842-20453843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139895944	chr14:20453854-20453855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565303694	chr14:20453878-20453879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34929857	chr14:20453879-20453880	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529504401	chr14:20453914-20453915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149833345	chr14:20453934-20453935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145865685	chr14:20454033-20454034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533456718	chr14:20454050-20454051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551841017	chr14:20454096-20454097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570051886	chr14:20454099-20454100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530315389	chr14:20454104-20454105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187522950	chr14:20454125-20454126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20444600-20445800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:20445800-20446000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:20448800-20449000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:20461200-20461600	Enhancers	Dnd41	blood
5	chr14:20461600-20462400	ZNF genes & repeats	Dnd41	blood
6	chr14:20470000-20471200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:20470600-20471000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:20478800-20479000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:20479600-20479800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:20482600-20483200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:20485000-20485600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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