Variant report

Variant	nsv482598
Chromosome Location	chr14:20477541-20632285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:549)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

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	ARID3A	chr14:20512405-20512844	K562	blood:	n/a	n/a
3	ATF1	chr14:20561670-20561913	K562	blood:	n/a	n/a
4	ATF1	chr14:20608626-20608778	K562	blood:	n/a	n/a
5	ATF1	chr14:20584956-20585164	K562	blood:	n/a	n/a
6	ATF3	chr14:20584968-20585229	K562	blood:	n/a	n/a
7	ATF3	chr14:20512489-20512787	K562	blood:	n/a	n/a
8	BACH1	chr14:20584638-20585505	K562	blood:	n/a	n/a
9	CBX3	chr14:20512416-20512761	K562	blood:	n/a	n/a
10	CBX3	chr14:20586942-20587293	K562	blood:	n/a	n/a
11	CBX3	chr14:20586982-20587337	K562	blood:	n/a	n/a
12	CBX3	chr14:20584916-20585201	K562	blood:	n/a	n/a
13	CCNT2	chr14:20516381-20516636	K562	blood:	n/a	n/a
14	CEBPB	chr14:20578612-20578943	IMR90	lung:	n/a	n/a
15	CEBPB	chr14:20584757-20585090	K562	blood:	n/a	n/a
16	CEBPB	chr14:20622449-20622660	HepG2	liver:	n/a	chr14:20622561-20622572
17	CEBPB	chr14:20578635-20578967	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:20546411-20546602	K562	blood:	n/a	n/a
19	CEBPB	chr14:20631110-20631224	HepG2	liver:	n/a	chr14:20631171-20631182
20	CEBPB	chr14:20524789-20524910	A549	lung:	n/a	n/a
21	CEBPB	chr14:20578626-20578939	A549	lung:	n/a	n/a
22	CEBPB	chr14:20578620-20578945	K562	blood:	n/a	n/a
23	CEBPB	chr14:20578686-20578922	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr14:20522008-20522207	HepG2	liver:	n/a	chr14:20522084-20522095
25	CEBPB	chr14:20522010-20522214	K562	blood:	n/a	chr14:20522084-20522095
26	CEBPB	chr14:20618584-20618626	A549	lung:	n/a	n/a
27	CHD2	chr14:20580655-20580812	GM12878	blood:	n/a	n/a
28	CTCF	chr14:20612060-20612210	BE2_C	brain:	n/a	n/a
29	CTCF	chr14:20612180-20612330	GM12875	blood:	n/a	n/a
30	CTCF	chr14:20612140-20612290	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr14:20612180-20612330	HepG2	liver:	n/a	n/a
32	CTCF	chr14:20612160-20612310	HL-60	blood:	n/a	n/a
33	CTCF	chr14:20556922-20556953	LNCaP	prostate:	n/a	n/a
34	CTCF	chr14:20625200-20625350	BE2_C	brain:	n/a	n/a
35	CTCF	chr14:20612120-20612370	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:20612220-20612370	HCT-116	colon:	n/a	n/a
37	CTCF	chr14:20612203-20612350	GM12892	blood:	n/a	n/a
38	CTCF	chr14:20612220-20612370	GM06990	blood:	n/a	n/a
39	CTCF	chr14:20612240-20612390	GM12873	blood:	n/a	n/a
40	CTCF	chr14:20612155-20612387	HepG2	liver:	n/a	n/a
41	CTCF	chr14:20612165-20612498	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:20612160-20612310	GM12874	blood:	n/a	n/a
43	CTCF	chr14:20612203-20612329	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:20612220-20612370	GM12869	blood:	n/a	n/a
45	CTCF	chr14:20556840-20556990	MCF-7	breast:	n/a	chr14:20556904-20556922
46	CTCF	chr14:20567745-20567752	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:20612123-20612384	GM12878	blood:	n/a	n/a
48	CTCF	chr14:20612138-20612474	K562	blood:	n/a	n/a
49	CTCF	chr14:20501199-20501221	ProgFib	skin:	n/a	n/a
50	CTCF	chr14:20625940-20626090	SK-N-SH_RA	brain:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20528812-20528862	GM06990	blood:	n/a
2	chr14:20586367-20586417	HL-60	blood:	n/a
3	chr14:20584239-20584289	GM19239	blood:	n/a
4	chr14:20528812-20528862	NHBE	bronchial:	n/a
5	chr14:20611779-20611829	HMEC	breast:	n/a
6	chr14:20612220-20612270	Hela-S3	cervix:	n/a
7	chr14:20586367-20586417	T-47D	breast:	n/a
8	chr14:20585753-20585803	HMEC	breast:	n/a
9	chr14:20611696-20611746	HNPCEpiC	eye:	n/a
10	chr14:20528812-20528862	RPTEC	kidney:	n/a
11	chr14:20612220-20612270	AoSMC	blood vessel:	n/a
12	chr14:20584239-20584289	PFSK-1	brain:	n/a
13	chr14:20584239-20584289	HRPEpiC	eye:	n/a
14	chr14:20502658-20502708	SK-N-MC	brain:	n/a
15	chr14:20611779-20611829	BE2_C	brain:	n/a
16	chr14:20586367-20586417	MCF10A-Er-Src	breast:	n/a
17	chr14:20611779-20611829	ProgFib	skin:	n/a
18	chr14:20612220-20612270	Caco-2	colon:	n/a
19	chr14:20611779-20611829	CMK	blood:	n/a
20	chr14:20611779-20611829	AG09309	skin:	n/a
21	chr14:20528812-20528862	AoSMC	blood vessel:	n/a
22	chr14:20611779-20611829	PFSK-1	brain:	n/a
23	chr14:20528812-20528862	AG04450	lung:	fetal
24	chr14:20586367-20586417	Caco-2	colon:	n/a
25	chr14:20586367-20586417	GM12891	blood:	n/a
26	chr14:20611779-20611829	GM12878	blood:	n/a
27	chr14:20585753-20585803	SK-N-SH	brain:	n/a
28	chr14:20612220-20612270	ProgFib	skin:	n/a
29	chr14:20502658-20502708	GM12892	blood:	n/a
30	chr14:20586367-20586417	HCF	heart:	n/a
31	chr14:20502658-20502708	HL-60	blood:	n/a
32	chr14:20584239-20584289	Jurkat	blood:	n/a
33	chr14:20502658-20502708	NT2-D1	testis:	n/a
34	chr14:20611779-20611829	Caco-2	colon:	n/a
35	chr14:20585753-20585803	GM12878	blood:	n/a
36	chr14:20611696-20611746	GM12892	blood:	n/a
37	chr14:20586367-20586417	NHBE	bronchial:	n/a
38	chr14:20584239-20584289	SAEC	small airway:	n/a
39	chr14:20611779-20611829	SKMC	muscle:	n/a
40	chr14:20612220-20612270	LNCaP	prostate:	n/a
41	chr14:20584239-20584289	GM12892	blood:	n/a
42	chr14:20528812-20528862	GM19239	blood:	n/a
43	chr14:20502658-20502708	HCM	heart:	n/a
44	chr14:20586367-20586417	AG10803	skin:	n/a
45	chr14:20528812-20528862	BE2_C	brain:	n/a
46	chr14:20584239-20584289	HUVEC	blood vessel:	n/a
47	chr14:20611696-20611746	GM06990	blood:	n/a
48	chr14:20586367-20586417	Jurkat	blood:	n/a
49	chr14:20482899-20482949	CMK	blood:	n/a
50	chr14:20482899-20482949	U87	brain:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
2	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
3	chr14:20623957..20624479-chr3:64655642..64656615,2	MCF-7	breast:
4	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
5	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:
6	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
7	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
8	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
9	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
10	chr14:20623640..20625607-chr14:20644962..20647182,2	K562	blood:
11	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:
12	chr14:20582658..20584245-chr14:20584576..20586426,2	K562	blood:
13	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
14	chr14:20615947..20618319-chr14:20622650..20625017,2	K562	blood:
15	chr14:20615947..20618319-chr14:20622650..20625486,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4N5-1	chr14:20617391-20617904	NONHSAT035552

No data

Variant related genes	Relation type
RNA5SP380	TF binding region
OR4K13	TF binding region
OR4N5	TF binding region
OR4K17	TF binding region
OR4K14	TF binding region
RNA5SP381	TF binding region
ENSG00000265199	TF binding region
OR4T1P	TF binding region
OR4L1	TF binding region
OR4U1P	TF binding region
PSMB7P1	TF binding region
RNA5SP380	CpG island
OR4K13	CpG island
OR4N5	CpG island
OR4K17	CpG island
OR4K14	CpG island
RNA5SP381	CpG island
ENSG00000265199	CpG island
OR4T1P	CpG island
OR4L1	CpG island
OR4U1P	CpG island
PSMB7P1	CpG island
ENSG00000259074	chromatin interactions
ENSG00000176230	chromatin interactions
ENSG00000184394	chromatin interactions

Extended variants
information (count: 1754 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58853481	chr14:20478805-20478806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577807849	chr14:20478822-20478823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181306986	chr14:20478841-20478842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563269490	chr14:20478874-20478875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367833452	chr14:20478884-20478885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186981152	chr14:20478894-20478895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548831179	chr14:20478901-20478902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560959452	chr14:20478911-20478912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528027481	chr14:20478915-20478916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111751059	chr14:20478934-20478935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562828145	chr14:20478937-20478938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117544730	chr14:20478970-20478971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111965132	chr14:20478976-20478977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149052545	chr14:20478977-20478978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551988892	chr14:20478978-20478979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554265704	chr14:20478986-20478987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146865685	chr14:20479720-20479721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553300461	chr14:20479721-20479722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191755612	chr14:20479725-20479726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550669088	chr14:20479783-20479784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72667649	chr14:20479798-20479799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539150551	chr14:20482606-20482607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112130140	chr14:20482613-20482614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372238009	chr14:20482622-20482623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376853696	chr14:20482624-20482625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369576157	chr14:20482637-20482638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201416953	chr14:20482655-20482656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs374172388	chr14:20482659-20482660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186457874	chr14:20482660-20482661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575064126	chr14:20482667-20482668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532165188	chr14:20482668-20482669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138494163	chr14:20482673-20482674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs267603918	chr14:20482687-20482688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191053630	chr14:20482694-20482695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147797181	chr14:20482704-20482705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547365570	chr14:20482711-20482712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141271240	chr14:20482732-20482733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139471333	chr14:20482753-20482754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150702306	chr14:20482764-20482765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564561908	chr14:20482770-20482771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531583013	chr14:20482772-20482773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536182010	chr14:20482776-20482777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149838792	chr14:20482791-20482792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376719079	chr14:20482793-20482794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549980035	chr14:20482796-20482797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143876579	chr14:20482815-20482816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139793752	chr14:20482816-20482817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200226562	chr14:20482835-20482836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547328684	chr14:20482838-20482839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373073211	chr14:20482846-20482847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20478800-20479000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:20479600-20479800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:20482600-20483200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:20485000-20485600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr14:20487800-20488200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr14:20496200-20499200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr14:20496600-20496800	Enhancers	Small Intestine	intestine
8	chr14:20500000-20500400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:20502200-20502400	Enhancers	Pancreas	Pancrea
10	chr14:20502400-20504200	Weak transcription	Pancreas	Pancrea
11	chr14:20512200-20512400	Enhancers	K562	blood
12	chr14:20512400-20512800	Flanking Active TSS	K562	blood
13	chr14:20512800-20513200	Enhancers	K562	blood
14	chr14:20513200-20515800	Weak transcription	K562	blood
15	chr14:20514600-20515000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:20515000-20517000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr14:20515800-20517600	Enhancers	K562	blood
18	chr14:20520400-20521400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr14:20533000-20533400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr14:20542800-20543400	Active TSS	Fetal Heart	heart
21	chr14:20561600-20562000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:20574400-20574600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:20580400-20580800	Enhancers	K562	blood
24	chr14:20580800-20584200	Weak transcription	K562	blood
25	chr14:20584200-20584600	Enhancers	K562	blood
26	chr14:20584600-20585000	Flanking Active TSS	K562	blood
27	chr14:20585000-20585200	Enhancers	K562	blood
28	chr14:20585200-20585400	Flanking Active TSS	K562	blood
29	chr14:20585400-20585600	Enhancers	K562	blood
30	chr14:20585400-20585800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:20585600-20585800	ZNF genes & repeats	K562	blood
32	chr14:20585800-20586400	Genic enhancers	K562	blood
33	chr14:20586200-20586600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:20586400-20586600	Enhancers	K562	blood
35	chr14:20611200-20612600	Enhancers	K562	blood
36	chr14:20612400-20612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:20613200-20613400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr14:20613600-20621000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:20622200-20622400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr14:20623000-20624000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr14:20630600-20630800	ZNF genes & repeats	Pancreas	Pancrea

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