Variant report

Variant	nsv520387
Chromosome Location	chr14:24954002-24967820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:24961363-24961489	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:24961253-24961544	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:24961288-24961606	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:24961365-24961539	MCF-7	breast:	n/a	n/a
5	CEBPB	chr14:24961460-24961471	A549	lung:	n/a	n/a
6	CTCF	chr14:24961360-24961510	HepG2	liver:	n/a	n/a
7	CTCF	chr14:24961380-24961530	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:24961340-24961490	A549	lung:	n/a	n/a
9	CTCF	chr14:24961362-24961525	HepG2	liver:	n/a	n/a
10	FOSL2	chr14:24960772-24961229	HepG2	liver:	n/a	n/a
11	FOXA1	chr14:24960780-24961353	HepG2	liver:	n/a	n/a
12	FOXA1	chr14:24960965-24961346	HepG2	liver:	n/a	n/a
13	FOXA1	chr14:24960856-24961236	HepG2	liver:	n/a	n/a
14	FOXA1	chr14:24960825-24961326	HepG2	liver:	n/a	n/a
15	FOXA2	chr14:24960926-24961244	HepG2	liver:	n/a	n/a
16	FOXA2	chr14:24960930-24961246	A549	lung:	n/a	n/a
17	HDAC2	chr14:24961273-24961515	HepG2	liver:	n/a	n/a
18	MAFF	chr14:24954170-24954310	HepG2	liver:	n/a	n/a
19	MAFK	chr14:24954238-24954309	HepG2	liver:	n/a	n/a
20	MAFK	chr14:24954166-24954322	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24960979-24961154	ProgFib	skin:	n/a	n/a
22	POLR2A	chr14:24963765-24963886	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr14:24963755-24963891	H1-hESC	embryonic stem cell:	n/a	n/a
24	SETDB1	chr14:24960808-24961162	U2OS	brain:	n/a	n/a
25	SPI1	chr14:24964412-24965156	GM12878	blood:	n/a	n/a
26	YY1	chr14:24960869-24961187	HepG2	liver:	n/a	n/a
27	YY1	chr14:24960921-24961165	K562	blood:	n/a	n/a
28	YY1	chr14:24960585-24960738	K562	blood:	n/a	n/a
29	YY1	chr14:24960784-24960916	K562	blood:	n/a	n/a
30	YY1	chr14:24960520-24961319	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24960817..24963613-chr14:24965277..24968190,2	K562	blood:
2	chr14:24960817..24963613-chr14:24965277..24968190,2	K562	blood:
3	chr14:24952643..24955226-chr14:24957985..24960918,2	K562	blood:
4	chr14:24952643..24955226-chr14:24957985..24960918,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258744	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2877649	chr14:24954002-24954003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs145172041	chr14:24954013-24954014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73596937	chr14:24954019-24954020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554654736	chr14:24954047-24954048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371636866	chr14:24954064-24954065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187670673	chr14:24954071-24954072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190866485	chr14:24954087-24954088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182925948	chr14:24954099-24954100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72679355	chr14:24954102-24954103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556176227	chr14:24954137-24954138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11625664	chr14:24954166-24954167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs6573835	chr14:24954202-24954203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7142396	chr14:24954228-24954229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139035954	chr14:24954243-24954244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140541262	chr14:24954307-24954308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560347220	chr14:24954358-24954359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57696934	chr14:24954393-24954394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11158731	chr14:24954394-24954395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146579344	chr14:24960628-24960629	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs185803392	chr14:24960661-24960662	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs112628162	chr14:24960665-24960666	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs538765220	chr14:24960688-24960689	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs139173763	chr14:24960689-24960690	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs551621112	chr14:24960694-24960695	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs533893006	chr14:24960738-24960739	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs28664260	chr14:24960795-24960796	Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs189399281	chr14:24960814-24960815	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574754101	chr14:24960822-24960823	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72679358	chr14:24960835-24960836	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567896476	chr14:24960847-24960848	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs573267240	chr14:24960851-24960852	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs181765142	chr14:24960852-24960853	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186188586	chr14:24960855-24960856	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571514046	chr14:24960877-24960878	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190602293	chr14:24960891-24960892	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181710169	chr14:24960915-24960916	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147047658	chr14:24960927-24960928	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376671914	chr14:24960947-24960948	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369895138	chr14:24960954-24960955	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556920715	chr14:24960959-24960960	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs578182956	chr14:24960966-24960967	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533939158	chr14:24960979-24960980	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546878530	chr14:24960980-24960981	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138082223	chr14:24960982-24960983	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs117081375	chr14:24960989-24960990	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552258152	chr14:24960997-24960998	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568822515	chr14:24961002-24961003	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538063244	chr14:24961055-24961056	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554829514	chr14:24961056-24961057	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2104082	chr14:24961078-24961079	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24950800-24954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:24951400-24954400	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:24952200-24954200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:24953400-24954200	Enhancers	Primary T cells from cord blood	blood
5	chr14:24953800-24954200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:24960600-24960800	Active TSS	K562	blood
7	chr14:24960600-24961000	Active TSS	A549	lung
8	chr14:24960600-24961000	Active TSS	Hela-S3	cervix
9	chr14:24960600-24961000	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr14:24960800-24961000	Flanking Active TSS	K562	blood
11	chr14:24961000-24961400	Bivalent/Poised TSS	HepG2	liver
12	chr14:24961400-24961600	Bivalent Enhancer	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links