Variant report

Variant	nsv976848
Chromosome Location	chr14:20539347-20582170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:20561670-20561913	K562	blood:	n/a	n/a
2	CEBPB	chr14:20578686-20578922	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:20578620-20578945	K562	blood:	n/a	n/a
4	CEBPB	chr14:20546411-20546602	K562	blood:	n/a	n/a
5	CEBPB	chr14:20578635-20578967	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:20578612-20578943	IMR90	lung:	n/a	n/a
7	CEBPB	chr14:20578626-20578939	A549	lung:	n/a	n/a
8	CHD2	chr14:20580655-20580812	GM12878	blood:	n/a	n/a
9	CTCF	chr14:20567759-20567762	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:20556820-20556970	HEK293	kidney:	n/a	chr14:20556904-20556922
11	CTCF	chr14:20567745-20567752	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:20556922-20556953	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:20542260-20542410	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:20567887-20567933	LNCaP	prostate:	n/a	n/a
15	CTCF	chr14:20556740-20556890	AG04449	skin:	n/a	n/a
16	CTCF	chr14:20556840-20556990	MCF-7	breast:	n/a	chr14:20556904-20556922
17	E2F4	chr14:20558815-20559015	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr14:20580560-20580770	GM12878	blood:	n/a	n/a
19	FOSL2	chr14:20572160-20572397	HepG2	liver:	n/a	n/a
20	FOXA1	chr14:20571983-20572393	HepG2	liver:	n/a	n/a
21	FOXA2	chr14:20572141-20572451	A549	lung:	n/a	n/a
22	FOXA2	chr14:20571954-20572593	A549	lung:	n/a	n/a
23	FOXA2	chr14:20552808-20553240	A549	lung:	n/a	n/a
24	GATA2	chr14:20552919-20553154	K562	blood:	n/a	n/a
25	JUN	chr14:20560254-20560445	K562	blood:	n/a	n/a
26	JUND	chr14:20572202-20572321	HepG2	liver:	n/a	n/a
27	KAP1	chr14:20571995-20572331	HEK293	kidney:	n/a	n/a
28	MAFF	chr14:20567916-20567939	HepG2	liver:	n/a	n/a
29	MAFK	chr14:20579598-20579826	HepG2	liver:	n/a	chr14:20579730-20579741 chr14:20579729-20579743 chr14:20579731-20579742
30	MAFK	chr14:20579693-20579847	HepG2	liver:	n/a	chr14:20579730-20579741 chr14:20579729-20579743 chr14:20579731-20579742
31	MAFK	chr14:20567906-20567943	HepG2	liver:	n/a	n/a
32	MAX	chr14:20580633-20580679	GM12878	blood:	n/a	n/a
33	MYC	chr14:20542761-20542810	MCF-7	breast:	n/a	n/a
34	MYC	chr14:20544833-20545033	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr14:20542775-20542854	MCF-7	breast:	n/a	n/a
36	NFYB	chr14:20567873-20568120	K562	blood:	n/a	n/a
37	NFYB	chr14:20567918-20568094	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:20553090-20553279	K562	blood:	n/a	n/a
39	POLR2A	chr14:20552942-20553111	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:20562908-20563012	ProgFib	skin:	n/a	n/a
41	POLR2A	chr14:20561432-20561947	HL-60	blood:	n/a	n/a
42	POLR2A	chr14:20563846-20563916	ProgFib	skin:	n/a	n/a
43	POLR2A	chr14:20552444-20552539	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:20567734-20567736	MCF-7	breast:	n/a	n/a
45	POLR2A	chr14:20567575-20567731	MCF-7	breast:	n/a	n/a
46	POLR2A	chr14:20547725-20547781	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:20572176-20572303	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr14:20542788-20542796	MCF-7	breast:	n/a	n/a
49	RCOR1	chr14:20561585-20561948	K562	blood:	n/a	n/a
50	RCOR1	chr14:20550103-20550111	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
2	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
3	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:

No data

Variant related genes	Relation type
OR4T1P	TF binding region
RNA5SP380	TF binding region
OR4K17	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

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:5 , 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

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