Variant report

Variant	nsv524732
Chromosome Location	chr14:20521060-20594389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:244)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:20584982-20585271	K562	blood:	n/a	n/a
2	ATF1	chr14:20561670-20561913	K562	blood:	n/a	n/a
3	ATF1	chr14:20584956-20585164	K562	blood:	n/a	n/a
4	ATF3	chr14:20584968-20585229	K562	blood:	n/a	n/a
5	BACH1	chr14:20584638-20585505	K562	blood:	n/a	n/a
6	CBX3	chr14:20586982-20587337	K562	blood:	n/a	n/a
7	CBX3	chr14:20586942-20587293	K562	blood:	n/a	n/a
8	CBX3	chr14:20584916-20585201	K562	blood:	n/a	n/a
9	CEBPB	chr14:20546411-20546602	K562	blood:	n/a	n/a
10	CEBPB	chr14:20522008-20522207	HepG2	liver:	n/a	chr14:20522084-20522095
11	CEBPB	chr14:20578626-20578939	A549	lung:	n/a	n/a
12	CEBPB	chr14:20584757-20585090	K562	blood:	n/a	n/a
13	CEBPB	chr14:20578686-20578922	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr14:20522010-20522214	K562	blood:	n/a	chr14:20522084-20522095
15	CEBPB	chr14:20578635-20578967	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:20578612-20578943	IMR90	lung:	n/a	n/a
17	CEBPB	chr14:20578620-20578945	K562	blood:	n/a	n/a
18	CEBPB	chr14:20524789-20524910	A549	lung:	n/a	n/a
19	CHD2	chr14:20580655-20580812	GM12878	blood:	n/a	n/a
20	CTCF	chr14:20528560-20528710	HepG2	liver:	n/a	n/a
21	CTCF	chr14:20556840-20556990	MCF-7	breast:	n/a	chr14:20556904-20556922
22	CTCF	chr14:20556820-20556970	HEK293	kidney:	n/a	chr14:20556904-20556922
23	CTCF	chr14:20567759-20567762	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:20556922-20556953	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:20567887-20567933	LNCaP	prostate:	n/a	n/a
26	CTCF	chr14:20587033-20587144	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr14:20556740-20556890	AG04449	skin:	n/a	n/a
28	CTCF	chr14:20542260-20542410	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:20567745-20567752	MCF-7	breast:	n/a	n/a
30	E2F4	chr14:20558815-20559015	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr14:20580560-20580770	GM12878	blood:	n/a	n/a
32	EP300	chr14:20593696-20593697	GM12878	blood:	n/a	n/a
33	EP300	chr14:20587010-20587299	K562	blood:	n/a	n/a
34	EP300	chr14:20584902-20585666	K562	blood:	n/a	n/a
35	FAM48A	chr14:20583235-20583641	GM12878	blood:	n/a	n/a
36	FOS	chr14:20537628-20537821	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr14:20524708-20524991	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr14:20524679-20525000	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr14:20524678-20525025	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr14:20524680-20525089	MCF10A-Er-Src	breast:	n/a	n/a
41	FOSL2	chr14:20572160-20572397	HepG2	liver:	n/a	n/a
42	FOXA1	chr14:20571983-20572393	HepG2	liver:	n/a	n/a
43	FOXA2	chr14:20572141-20572451	A549	lung:	n/a	n/a
44	FOXA2	chr14:20552808-20553240	A549	lung:	n/a	n/a
45	FOXA2	chr14:20571954-20572593	A549	lung:	n/a	n/a
46	GATA1	chr14:20584852-20585297	PBDE	blood:	n/a	chr14:20585061-20585068 chr14:20585059-20585069 chr14:20585058-20585070
47	GATA2	chr14:20552919-20553154	K562	blood:	n/a	n/a
48	GATA3	chr14:20593414-20593629	SH-SY5Y	brain:	n/a	n/a
49	IRF1	chr14:20585069-20585406	K562	blood:	n/a	n/a
50	IRF1	chr14:20584998-20585313	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20586367-20586417	GM12892	blood:	n/a
2	chr14:20585753-20585803	HCF	heart:	n/a
3	chr14:20585753-20585803	AG04449	skin:	fetal
4	chr14:20584239-20584289	GM12878	blood:	n/a
5	chr14:20528812-20528862	IMR90	lung:	fetal
6	chr14:20528812-20528862	H1-hESC	embryonic stem cell:	embryo
7	chr14:20528812-20528862	HEK293	kidney:	embryo
8	chr14:20585753-20585803	PANC-1	pancreas:	n/a
9	chr14:20584239-20584289	NHBE	bronchial:	n/a
10	chr14:20584239-20584289	HNPCEpiC	eye:	n/a
11	chr14:20585753-20585803	HRCEpiC	kidney:	n/a
12	chr14:20586367-20586417	NT2-D1	testis:	n/a
13	chr14:20584239-20584289	SK-N-SH	brain:	n/a
14	chr14:20585753-20585803	HepG2	liver:	n/a
15	chr14:20528812-20528862	HMEC	breast:	n/a
16	chr14:20584239-20584289	SK-N-SH_RA	brain:	n/a
17	chr14:20584239-20584289	A549	lung:	n/a
18	chr14:20528812-20528862	HRE	kidney:	n/a
19	chr14:20584239-20584289	GM12891	blood:	n/a
20	chr14:20528812-20528862	HRPEpiC	eye:	n/a
21	chr14:20585753-20585803	Jurkat	blood:	n/a
22	chr14:20584239-20584289	BJ	skin:	n/a
23	chr14:20586367-20586417	IMR90	lung:	fetal
24	chr14:20585753-20585803	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:20584239-20584289	GM06990	blood:	n/a
26	chr14:20528812-20528862	CMK	blood:	n/a
27	chr14:20584239-20584289	Hela-S3	cervix:	n/a
28	chr14:20585753-20585803	K562	blood:	n/a
29	chr14:20528812-20528862	NHDF-neo	bronchial:	n/a
30	chr14:20528812-20528862	AG10803	skin:	n/a
31	chr14:20586367-20586417	NH-A	brain:	n/a
32	chr14:20584239-20584289	HCT-116	colon:	n/a
33	chr14:20584239-20584289	HCM	heart:	n/a
34	chr14:20585753-20585803	HEK293	kidney:	embryo
35	chr14:20528812-20528862	Hepatocyte	liver:	n/a
36	chr14:20585753-20585803	U87	brain:	n/a
37	chr14:20528812-20528862	AG09309	skin:	n/a
38	chr14:20585753-20585803	AoSMC	blood vessel:	n/a
39	chr14:20584239-20584289	MCF-7	breast:	n/a
40	chr14:20586367-20586417	HCM	heart:	n/a
41	chr14:20528812-20528862	HCF	heart:	n/a
42	chr14:20586367-20586417	HIPEpiC	eye:	n/a
43	chr14:20528812-20528862	Caco-2	colon:	n/a
44	chr14:20584239-20584289	AG10803	skin:	n/a
45	chr14:20528812-20528862	HCPEpiC	choroid plexus:	n/a
46	chr14:20528812-20528862	SAEC	small airway:	n/a
47	chr14:20584239-20584289	HIPEpiC	eye:	n/a
48	chr14:20585753-20585803	HEEpiC	esophagus:	n/a
49	chr14:20584239-20584289	RPTEC	kidney:	n/a
50	chr14:20585753-20585803	HRE	kidney:	n/a

(count:7 , 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	chr14:20582658..20584245-chr14:20584576..20586426,2	K562	blood:
4	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
5	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
6	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
7	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:

No data

Variant related genes	Relation type
OR4T1P	TF binding region
OR4L1	TF binding region
RNA5SP380	TF binding region
OR4K17	TF binding region
OR4T1P	CpG island
OR4L1	CpG island
RNA5SP380	CpG island
OR4K17	CpG island
ENSG00000176230	chromatin interactions

Extended variants
information (count: 398 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:398 , 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	rs1953992	chr14:20521060-20521061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550444805	chr14:20521069-20521070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148555172	chr14:20521070-20521071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1953991	chr14:20521104-20521105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs142937968	chr14:20521151-20521152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572626525	chr14:20521173-20521174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184091600	chr14:20521191-20521192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557712576	chr14:20521202-20521203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146152070	chr14:20521216-20521217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs115913376	chr14:20521247-20521248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140201825	chr14:20521268-20521269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143542825	chr14:20521282-20521283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146794113	chr14:20521287-20521288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140480843	chr14:20521308-20521309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188531479	chr14:20521316-20521317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545051803	chr14:20521320-20521321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117523288	chr14:20521331-20521332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111890834	chr14:20521380-20521381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560338073	chr14:20524691-20524692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192489768	chr14:20524735-20524736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1959633	chr14:20524742-20524743	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75596279	chr14:20524789-20524790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531482525	chr14:20524798-20524799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141399676	chr14:20524823-20524824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568041852	chr14:20524877-20524878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535069247	chr14:20524879-20524880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377442182	chr14:20524880-20524881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547469202	chr14:20524888-20524889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74037205	chr14:20524931-20524932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534406048	chr14:20524936-20524937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559178164	chr14:20524941-20524942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373628518	chr14:20524944-20524945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs116405648	chr14:20524954-20524955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs72669021	chr14:20524956-20524957	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556323458	chr14:20524958-20524959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183777193	chr14:20524968-20524969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2994416	chr14:20524976-20524977	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187991448	chr14:20524977-20524978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76316569	chr14:20524979-20524980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs202121196	chr14:20524985-20524986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs147005318	chr14:20525006-20525007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2994415	chr14:20525016-20525017	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192393595	chr14:20525032-20525033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs116738763	chr14:20525059-20525060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs145118554	chr14:20525066-20525067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs72669022	chr14:20525093-20525094	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180850042	chr14:20525979-20525980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs35495025	chr14:20525981-20525982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs544051430	chr14:20533010-20533011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs147028575	chr14:20533028-20533029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 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
4	chr14:20561600-20562000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:20574400-20574600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr14:20580400-20580800	Enhancers	K562	blood
7	chr14:20580800-20584200	Weak transcription	K562	blood
8	chr14:20584200-20584600	Enhancers	K562	blood
9	chr14:20584600-20585000	Flanking Active TSS	K562	blood
10	chr14:20585000-20585200	Enhancers	K562	blood
11	chr14:20585200-20585400	Flanking Active TSS	K562	blood
12	chr14:20585400-20585600	Enhancers	K562	blood
13	chr14:20585400-20585800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:20585600-20585800	ZNF genes & repeats	K562	blood
15	chr14:20585800-20586400	Genic enhancers	K562	blood
16	chr14:20586200-20586600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:20586400-20586600	Enhancers	K562	blood

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