Variant report

Variant	nsv1046636
Chromosome Location	chr14:20520198-20553272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:20546411-20546602	K562	blood:	n/a	n/a
2	CEBPB	chr14:20524789-20524910	A549	lung:	n/a	n/a
3	CEBPB	chr14:20522010-20522214	K562	blood:	n/a	chr14:20522084-20522095
4	CEBPB	chr14:20522008-20522207	HepG2	liver:	n/a	chr14:20522084-20522095
5	CTCF	chr14:20542260-20542410	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:20528560-20528710	HepG2	liver:	n/a	n/a
7	FOS	chr14:20524679-20525000	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:20537628-20537821	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:20524678-20525025	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:20524708-20524991	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr14:20524680-20525089	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr14:20552808-20553240	A549	lung:	n/a	n/a
13	GATA2	chr14:20552919-20553154	K562	blood:	n/a	n/a
14	JUN	chr14:20537710-20537864	HepG2	liver:	n/a	n/a
15	JUND	chr14:20537662-20537938	HepG2	liver:	n/a	chr14:20537761-20537772
16	MYC	chr14:20542761-20542810	MCF-7	breast:	n/a	n/a
17	MYC	chr14:20544833-20545033	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr14:20542775-20542854	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:20553090-20553279	K562	blood:	n/a	n/a
20	POLR2A	chr14:20552942-20553111	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:20547725-20547781	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:20552444-20552539	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:20542788-20542796	MCF-7	breast:	n/a	n/a
24	RCOR1	chr14:20550103-20550111	GM12878	blood:	n/a	n/a
25	SETDB1	chr14:20533438-20533809	U2OS	brain:	n/a	n/a
26	SETDB1	chr14:20534102-20534631	U2OS	brain:	n/a	n/a
27	SPI1	chr14:20553094-20553241	K562	blood:	n/a	n/a
28	STAT3	chr14:20543528-20543754	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr14:20524676-20524878	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr14:20545201-20545230	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr14:20540397-20540532	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr14:20532700-20532782	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr14:20520207-20520232	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr14:20524722-20524931	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr14:20524659-20525098	MCF10A-Er-Src	breast:	n/a	n/a
36	UBTF	chr14:20525966-20525982	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20528812-20528862	NHBE	bronchial:	n/a
2	chr14:20528812-20528862	MCF-7	breast:	n/a
3	chr14:20528812-20528862	AG09309	skin:	n/a
4	chr14:20528812-20528862	GM19239	blood:	n/a
5	chr14:20528812-20528862	MCF10A-Er-Src	breast:	n/a
6	chr14:20528812-20528862	SAEC	small airway:	n/a
7	chr14:20528812-20528862	GM12878	blood:	n/a
8	chr14:20528812-20528862	PANC-1	pancreas:	n/a
9	chr14:20528812-20528862	AG09319	gingival:	n/a
10	chr14:20528812-20528862	HEEpiC	esophagus:	n/a
11	chr14:20528812-20528862	LNCaP	prostate:	n/a
12	chr14:20528812-20528862	NB4	blood:	n/a
13	chr14:20528812-20528862	HEK293	kidney:	embryo
14	chr14:20528812-20528862	SK-N-SH	brain:	n/a
15	chr14:20528812-20528862	PFSK-1	brain:	n/a
16	chr14:20528812-20528862	IMR90	lung:	fetal
17	chr14:20528812-20528862	BJ	skin:	n/a
18	chr14:20528812-20528862	HPAEpiC	pulmonary alveolar:	n/a
19	chr14:20528812-20528862	GM06990	blood:	n/a
20	chr14:20528812-20528862	HCPEpiC	choroid plexus:	n/a
21	chr14:20528812-20528862	Jurkat	blood:	n/a
22	chr14:20528812-20528862	H1-hESC	embryonic stem cell:	embryo
23	chr14:20528812-20528862	HCF	heart:	n/a
24	chr14:20528812-20528862	U87	brain:	n/a
25	chr14:20528812-20528862	HUVEC	blood vessel:	n/a
26	chr14:20528812-20528862	SK-N-SH_RA	brain:	n/a
27	chr14:20528812-20528862	K562	blood:	n/a
28	chr14:20528812-20528862	CMK	blood:	n/a
29	chr14:20528812-20528862	ECC-1	luminal epithelium:	n/a
30	chr14:20528812-20528862	HRPEpiC	eye:	n/a
31	chr14:20528812-20528862	HIPEpiC	eye:	n/a
32	chr14:20528812-20528862	AG10803	skin:	n/a
33	chr14:20528812-20528862	ProgFib	skin:	n/a
34	chr14:20528812-20528862	GM12891	blood:	n/a
35	chr14:20528812-20528862	HAEpiC	amniotic membrane:	n/a
36	chr14:20528812-20528862	HNPCEpiC	eye:	n/a
37	chr14:20528812-20528862	GM12892	blood:	n/a
38	chr14:20528812-20528862	NT2-D1	testis:	n/a
39	chr14:20528812-20528862	ovcar-3	ovarian:	n/a
40	chr14:20528812-20528862	HRE	kidney:	n/a
41	chr14:20528812-20528862	T-47D	breast:	n/a
42	chr14:20528812-20528862	AoSMC	blood vessel:	n/a
43	chr14:20528812-20528862	Hela-S3	cervix:	n/a
44	chr14:20528812-20528862	A549	lung:	n/a
45	chr14:20528812-20528862	HMEC	breast:	n/a
46	chr14:20528812-20528862	PrEC	prostate:	n/a
47	chr14:20528812-20528862	NHDF-neo	bronchial:	n/a
48	chr14:20528812-20528862	AG04450	lung:	fetal
49	chr14:20528812-20528862	RPTEC	kidney:	n/a
50	chr14:20528812-20528862	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
2	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
3	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
4	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:

No data

Variant related genes	Relation type
OR4L1	TF binding region
OR4L1	CpG island

Extended variants
information (count: 128 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193023795	chr14:20520420-20520421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184651274	chr14:20520439-20520440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138980575	chr14:20520445-20520446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142694091	chr14:20520455-20520456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545883591	chr14:20520462-20520463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370979940	chr14:20520471-20520472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28520484	chr14:20520550-20520551	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28516688	chr14:20520555-20520556	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561661875	chr14:20520572-20520573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs55800026	chr14:20520574-20520575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs28622153	chr14:20520579-20520580	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565664685	chr14:20520590-20520591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147355267	chr14:20520612-20520613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28718938	chr14:20520675-20520676	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569719127	chr14:20520684-20520685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538461293	chr14:20520689-20520690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28386476	chr14:20520690-20520691	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575059561	chr14:20520703-20520704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs28591203	chr14:20520711-20520712	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553919405	chr14:20520714-20520715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115640223	chr14:20520767-20520768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545747981	chr14:20520784-20520785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564264494	chr14:20520813-20520814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs137961792	chr14:20520881-20520882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543244821	chr14:20520938-20520939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149489070	chr14:20520939-20520940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187592741	chr14:20520954-20520955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1953993	chr14:20520955-20520956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs113448604	chr14:20520956-20520957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74033799	chr14:20520957-20520958	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376742039	chr14:20520961-20520962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144766775	chr14:20520979-20520980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192974162	chr14:20521058-20521059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1953992	chr14:20521060-20521061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550444805	chr14:20521069-20521070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148555172	chr14:20521070-20521071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1953991	chr14:20521104-20521105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs142937968	chr14:20521151-20521152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572626525	chr14:20521173-20521174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184091600	chr14:20521191-20521192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557712576	chr14:20521202-20521203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146152070	chr14:20521216-20521217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115913376	chr14:20521247-20521248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140201825	chr14:20521268-20521269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143542825	chr14:20521282-20521283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146794113	chr14:20521287-20521288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140480843	chr14:20521308-20521309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188531479	chr14:20521316-20521317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545051803	chr14:20521320-20521321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117523288	chr14:20521331-20521332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	15273396	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20520400-20521400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr14:20533000-20533400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr14:20542800-20543400	Active TSS	Fetal Heart	heart

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