Variant report

Variant	nsv901465
Chromosome Location	chr14:20539305-20622987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:367)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

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	ATF1	chr14:20608626-20608778	K562	blood:	n/a	n/a
5	ATF3	chr14:20584968-20585229	K562	blood:	n/a	n/a
6	BACH1	chr14:20584638-20585505	K562	blood:	n/a	n/a
7	CBX3	chr14:20586982-20587337	K562	blood:	n/a	n/a
8	CBX3	chr14:20586942-20587293	K562	blood:	n/a	n/a
9	CBX3	chr14:20584916-20585201	K562	blood:	n/a	n/a
10	CEBPB	chr14:20578686-20578922	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:20584757-20585090	K562	blood:	n/a	n/a
12	CEBPB	chr14:20578635-20578967	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:20578626-20578939	A549	lung:	n/a	n/a
14	CEBPB	chr14:20546411-20546602	K562	blood:	n/a	n/a
15	CEBPB	chr14:20622449-20622660	HepG2	liver:	n/a	chr14:20622561-20622572
16	CEBPB	chr14:20618584-20618626	A549	lung:	n/a	n/a
17	CEBPB	chr14:20578612-20578943	IMR90	lung:	n/a	n/a
18	CEBPB	chr14:20578620-20578945	K562	blood:	n/a	n/a
19	CHD2	chr14:20580655-20580812	GM12878	blood:	n/a	n/a
20	CTCF	chr14:20612220-20612370	BE2_C	brain:	n/a	n/a
21	CTCF	chr14:20612340-20612490	GM12864	blood:	n/a	n/a
22	CTCF	chr14:20612120-20612270	GM12875	blood:	n/a	n/a
23	CTCF	chr14:20612192-20612348	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:20612220-20612370	GM12869	blood:	n/a	n/a
25	CTCF	chr14:20612180-20612330	RPTEC	kidney:	n/a	n/a
26	CTCF	chr14:20612160-20612310	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:20612233-20612333	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:20612240-20612390	GM12868	blood:	n/a	n/a
29	CTCF	chr14:20567745-20567752	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:20612173-20612366	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:20612165-20612498	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:20612240-20612390	GM12864	blood:	n/a	n/a
33	CTCF	chr14:20612203-20612350	GM12892	blood:	n/a	n/a
34	CTCF	chr14:20612180-20612330	HEK293	kidney:	n/a	n/a
35	CTCF	chr14:20556740-20556890	AG04449	skin:	n/a	n/a
36	CTCF	chr14:20612138-20612474	K562	blood:	n/a	n/a
37	CTCF	chr14:20612200-20612350	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:20612200-20612350	GM12878	blood:	n/a	n/a
39	CTCF	chr14:20612220-20612370	HEK293	kidney:	n/a	n/a
40	CTCF	chr14:20612180-20612330	GM12875	blood:	n/a	n/a
41	CTCF	chr14:20587033-20587144	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr14:20612233-20612323	ProgFib	skin:	n/a	n/a
43	CTCF	chr14:20612160-20612310	GM06990	blood:	n/a	n/a
44	CTCF	chr14:20612180-20612330	A549	lung:	n/a	n/a
45	CTCF	chr14:20612280-20612430	Caco-2	colon:	n/a	n/a
46	CTCF	chr14:20567887-20567933	LNCaP	prostate:	n/a	n/a
47	CTCF	chr14:20612203-20612329	LNCaP	prostate:	n/a	n/a
48	CTCF	chr14:20612024-20612505	K562	blood:	n/a	n/a
49	CTCF	chr14:20612220-20612370	HCT-116	colon:	n/a	n/a
50	CTCF	chr14:20612160-20612310	GM12874	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20584239-20584289	PANC-1	pancreas:	n/a
2	chr14:20584239-20584289	PANC-1	pancreas:	n/a
3	chr14:20612220-20612270	PrEC	prostate:	n/a
4	chr14:20586367-20586417	SK-N-MC	brain:	n/a
5	chr14:20586367-20586417	SAEC	small airway:	n/a
6	chr14:20611696-20611746	AoSMC	blood vessel:	n/a
7	chr14:20586367-20586417	A549	lung:	n/a
8	chr14:20586367-20586417	GM12878	blood:	n/a
9	chr14:20611696-20611746	IMR90	lung:	fetal
10	chr14:20611696-20611746	HL-60	blood:	n/a
11	chr14:20611779-20611829	AG09319	gingival:	n/a
12	chr14:20612220-20612270	BE2_C	brain:	n/a
13	chr14:20585753-20585803	SK-N-MC	brain:	n/a
14	chr14:20585753-20585803	PrEC	prostate:	n/a
15	chr14:20586367-20586417	Hepatocyte	liver:	n/a
16	chr14:20611779-20611829	MCF-7	breast:	n/a
17	chr14:20611779-20611829	Hepatocyte	liver:	n/a
18	chr14:20586367-20586417	HEEpiC	esophagus:	n/a
19	chr14:20611779-20611829	AG04449	skin:	fetal
20	chr14:20586367-20586417	HCPEpiC	choroid plexus:	n/a
21	chr14:20586367-20586417	NHDF-neo	bronchial:	n/a
22	chr14:20584239-20584289	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:20611696-20611746	SK-N-SH	brain:	n/a
24	chr14:20585753-20585803	IMR90	lung:	fetal
25	chr14:20611779-20611829	HAEpiC	amniotic membrane:	n/a
26	chr14:20586367-20586417	HCF	heart:	n/a
27	chr14:20584239-20584289	U87	brain:	n/a
28	chr14:20611696-20611746	GM19239	blood:	n/a
29	chr14:20584239-20584289	HEEpiC	esophagus:	n/a
30	chr14:20584239-20584289	H1-hESC	embryonic stem cell:	embryo
31	chr14:20611696-20611746	AG04450	lung:	fetal
32	chr14:20612220-20612270	RPTEC	kidney:	n/a
33	chr14:20584239-20584289	Jurkat	blood:	n/a
34	chr14:20612220-20612270	HNPCEpiC	eye:	n/a
35	chr14:20586367-20586417	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:20586367-20586417	HCM	heart:	n/a
37	chr14:20611696-20611746	GM12891	blood:	n/a
38	chr14:20611696-20611746	PrEC	prostate:	n/a
39	chr14:20584239-20584289	SK-N-SH_RA	brain:	n/a
40	chr14:20612220-20612270	SK-N-MC	brain:	n/a
41	chr14:20611696-20611746	HCT-116	colon:	n/a
42	chr14:20584239-20584289	AG04449	skin:	fetal
43	chr14:20584239-20584289	MCF10A-Er-Src	breast:	n/a
44	chr14:20612220-20612270	MCF10A-Er-Src	breast:	n/a
45	chr14:20584239-20584289	HAEpiC	amniotic membrane:	n/a
46	chr14:20612220-20612270	MCF-7	breast:	n/a
47	chr14:20611696-20611746	BE2_C	brain:	n/a
48	chr14:20611779-20611829	HCPEpiC	choroid plexus:	n/a
49	chr14:20586367-20586417	HCT-116	colon:	n/a
50	chr14:20586367-20586417	HMEC	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
2	chr14:20615947..20618319-chr14:20622650..20625486,3	K562	blood:
3	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
4	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
5	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
6	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
7	chr14:20615947..20618319-chr14:20622650..20625017,2	K562	blood:
8	chr14:20582658..20584245-chr14:20584576..20586426,2	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
OR4N5	TF binding region
OR4K17	TF binding region
RNA5SP381	TF binding region
OR4T1P	TF binding region
PSMB7P1	TF binding region
RNA5SP380	CpG island
OR4N5	CpG island
OR4K17	CpG island
RNA5SP381	CpG island
OR4T1P	CpG island
PSMB7P1	CpG island
ENSG00000259074	chromatin interactions
ENSG00000184394	chromatin interactions
ENSG00000176230	chromatin interactions

Extended variants
information (count: 870 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187202894	chr14:20542802-20542803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575649447	chr14:20542818-20542819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557635522	chr14:20542911-20542912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191747454	chr14:20542924-20542925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35173070	chr14:20542926-20542927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572963792	chr14:20542954-20542955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540150029	chr14:20542957-20542958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564821076	chr14:20542960-20542961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532007075	chr14:20543032-20543033	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550157794	chr14:20543038-20543039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114115290	chr14:20543063-20543064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374286850	chr14:20543066-20543067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529762707	chr14:20543078-20543079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548222550	chr14:20543089-20543090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184708936	chr14:20543092-20543093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75949813	chr14:20543099-20543100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547354043	chr14:20543103-20543104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190151705	chr14:20543137-20543138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144176637	chr14:20543141-20543142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79688388	chr14:20543144-20543145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545603633	chr14:20543147-20543148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560551047	chr14:20543159-20543160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117639507	chr14:20543164-20543165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146553137	chr14:20543193-20543194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182245748	chr14:20543216-20543217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546328841	chr14:20543260-20543261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561343136	chr14:20543364-20543365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150970436	chr14:20556759-20556760	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs552879226	chr14:20556772-20556773	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs566688182	chr14:20556792-20556793	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs188558142	chr14:20556823-20556824	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs181603478	chr14:20556896-20556897	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs570652355	chr14:20556903-20556904	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs538090256	chr14:20556910-20556911	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs556204500	chr14:20556979-20556980	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs535792108	chr14:20558839-20558840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs554423832	chr14:20558859-20558860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572382360	chr14:20558862-20558863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539810914	chr14:20558875-20558876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12590521	chr14:20558876-20558877	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12588910	chr14:20558938-20558939	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs199781272	chr14:20558946-20558947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs77480255	chr14:20558983-20558984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74585844	chr14:20560258-20560259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75010817	chr14:20560259-20560260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs116033362	chr14:20560281-20560282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183806811	chr14:20560299-20560300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537435525	chr14:20560314-20560315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs12890274	chr14:20560354-20560355	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567754143	chr14:20560371-20560372	Inactive region	TF binding region	1 gene(s)	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20542800-20543400	Active TSS	Fetal Heart	heart
2	chr14:20561600-20562000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:20574400-20574600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:20580400-20580800	Enhancers	K562	blood
5	chr14:20580800-20584200	Weak transcription	K562	blood
6	chr14:20584200-20584600	Enhancers	K562	blood
7	chr14:20584600-20585000	Flanking Active TSS	K562	blood
8	chr14:20585000-20585200	Enhancers	K562	blood
9	chr14:20585200-20585400	Flanking Active TSS	K562	blood
10	chr14:20585400-20585600	Enhancers	K562	blood
11	chr14:20585400-20585800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:20585600-20585800	ZNF genes & repeats	K562	blood
13	chr14:20585800-20586400	Genic enhancers	K562	blood
14	chr14:20586200-20586600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:20586400-20586600	Enhancers	K562	blood
16	chr14:20611200-20612600	Enhancers	K562	blood
17	chr14:20612400-20612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:20613200-20613400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr14:20613600-20621000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:20622200-20622400	Enhancers	Pancreatic Islets	Pancreatic Islet

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