Variant report

Variant	nsv946410
Chromosome Location	chr1:155119039-155135318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:155132713-155133037	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:155132878-155132924	K562	blood:	n/a	n/a
3	CEBPB	chr1:155132768-155132908	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:155127073-155127152	GM13976	blood:	n/a	n/a
5	CTCF	chr1:155122677-155122702	LNCaP	prostate:	n/a	n/a
6	CTCF	chr1:155123706-155123824	Lung_OC	lung:	n/a	n/a
7	CTCF	chr1:155118900-155119050	Hela-S3	cervix:	n/a	n/a
8	EP300	chr1:155122471-155122658	GM12878	blood:	n/a	n/a
9	EP300	chr1:155122400-155122600	GM12878	blood:	n/a	n/a
10	FOS	chr1:155130387-155130488	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr1:155130275-155130616	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr1:155130288-155130611	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr1:155131509-155131668	T-47D	breast:	n/a	n/a
14	GATA3	chr1:155122330-155122642	T-47D	breast:	n/a	n/a
15	GATA3	chr1:155131442-155131935	MCF-7	breast:	n/a	n/a
16	GATA3	chr1:155131644-155131901	T-47D	breast:	n/a	n/a
17	JUN	chr1:155134941-155134968	K562	blood:	n/a	n/a
18	MAFF	chr1:155131754-155131938	HepG2	liver:	n/a	chr1:155131845-155131863
19	MAFF	chr1:155132658-155132793	HepG2	liver:	n/a	chr1:155132697-155132715
20	MAFK	chr1:155132591-155132808	HepG2	liver:	n/a	chr1:155132699-155132714
21	MAFK	chr1:155132638-155132787	HepG2	liver:	n/a	chr1:155132699-155132714
22	MAFK	chr1:155131743-155131965	HepG2	liver:	n/a	chr1:155131850-155131861 chr1:155131846-155131861 chr1:155131841-155131861
23	MAFK	chr1:155131677-155131940	HepG2	liver:	n/a	chr1:155131850-155131861 chr1:155131846-155131861 chr1:155131841-155131861
24	MAFK	chr1:155131806-155131906	Hela-S3	cervix:	n/a	chr1:155131850-155131861 chr1:155131846-155131861 chr1:155131841-155131861
25	MAX	chr1:155131441-155131814	MCF-7	breast:	n/a	n/a
26	NR2F2	chr1:155131421-155131918	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:155132781-155132871	MCF-7	breast:	n/a	n/a
28	POLR2A	chr1:155126580-155126623	K562	blood:	n/a	n/a
29	RCOR1	chr1:155122445-155122565	GM12878	blood:	n/a	n/a
30	REST	chr1:155126473-155126604	H1-hESC	embryonic stem cell:	n/a	n/a
31	RXRA	chr1:155126467-155126640	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr1:155131457-155131953	MCF-7	breast:	n/a	n/a
33	SMC3	chr1:155132851-155132855	HepG2	liver:	n/a	n/a
34	SPI1	chr1:155122319-155122670	GM12878	blood:	n/a	n/a
35	SPI1	chr1:155122273-155122700	GM12891	blood:	n/a	n/a
36	SPI1	chr1:155122065-155122829	GM12878	blood:	n/a	n/a
37	SPI1	chr1:155122279-155122648	GM12891	blood:	n/a	n/a
38	SPI1	chr1:155122373-155122552	GM12878	blood:	n/a	n/a
39	ZBTB33	chr1:155126451-155126658	HepG2	liver:	n/a	n/a
40	ZNF217	chr1:155131520-155131927	MCF-7	breast:	n/a	n/a
41	ZNF384	chr1:155122089-155122659	GM12878	blood:	n/a	n/a
42	ZNF384	chr1:155123408-155123554	K562	blood:	n/a	n/a
43	ZNF384	chr1:155123429-155123518	GM12878	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155063776..155066689-chr1:155134444..155136393,2	MCF-7	breast:
2	chr1:155111239..155113917-chr1:155117499..155120252,4	K562	blood:
3	chr1:155110721..155113114-chr1:155118556..155120875,2	MCF-7	breast:
4	chr1:155131530..155134967-chr1:155138392..155140574,4	MCF-7	breast:
5	chr1:155064094..155065891-chr1:155117626..155119134,2	MCF-7	breast:
6	chr1:155131988..155135383-chr1:155138366..155142220,5	MCF-7	breast:
7	chr1:155055897..155058155-chr1:155117683..155120676,2	K562	blood:
8	chr1:155132400..155136245-chr1:155142464..155147047,4	MCF-7	breast:
9	chr1:155066341..155068339-chr1:155131182..155134101,2	MCF-7	breast:
10	chr1:155099426..155102245-chr1:155118836..155121124,2	K562	blood:
11	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
12	chr1:155112436..155115109-chr1:155129584..155132242,3	MCF-7	breast:
13	chr1:154955777..154957293-chr1:155130260..155131769,2	MCF-7	breast:
14	chr1:155106693..155108938-chr1:155117620..155120288,4	K562	blood:
15	chr1:155097771..155101045-chr1:155131869..155134715,3	MCF-7	breast:
16	chr1:155106324..155115462-chr1:155131611..155142074,22	MCF-7	breast:
17	chr1:155107114..155109500-chr1:155118349..155120152,2	K562	blood:
18	chr1:155098499..155102603-chr1:155131251..155133761,5	MCF-7	breast:
19	chr1:155132887..155135800-chr1:155138561..155141355,2	K562	blood:
20	chr1:155063203..155065869-chr1:155133125..155134696,2	K562	blood:

No data

Variant related genes	Relation type
HMGN2P18	TF binding region
ENSG00000163463	chromatin interactions
ENSG00000179085	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000160688	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000163462	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551526429	chr1:155119109-155119110	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs371131133	chr1:155119219-155119220	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs569761841	chr1:155119326-155119327	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs12025371	chr1:155119327-155119328	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs63172161	chr1:155119328-155119329	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs35304908	chr1:155119337-155119338	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs200904468	chr1:155119338-155119339	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs540946124	chr1:155119341-155119342	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190733852	chr1:155119407-155119408	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs182933338	chr1:155119412-155119413	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567222792	chr1:155119474-155119475	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372984572	chr1:155119476-155119477	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs552957975	chr1:155119491-155119492	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187272591	chr1:155119563-155119564	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs577797621	chr1:155119580-155119581	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs538452425	chr1:155119605-155119606	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs557074783	chr1:155119640-155119641	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs151256463	chr1:155119641-155119642	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs140452988	chr1:155119643-155119644	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs12744568	chr1:155119700-155119701	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs150417359	chr1:155119746-155119747	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs573124592	chr1:155119776-155119777	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs540958061	chr1:155119782-155119783	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs10157790	chr1:155119813-155119814	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200839199	chr1:155119814-155119815	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs9330265	chr1:155119819-155119820	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs369895878	chr1:155119825-155119826	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs371769419	chr1:155119828-155119829	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs147190579	chr1:155119829-155119830	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs200972693	chr1:155119831-155119832	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs202198522	chr1:155119832-155119833	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs200266925	chr1:155119834-155119835	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs12748871	chr1:155119844-155119845	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs10157792	chr1:155119845-155119846	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs12723933	chr1:155119850-155119851	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs377019350	chr1:155119856-155119857	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs369249955	chr1:155119859-155119860	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs144625416	chr1:155119860-155119861	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs72704103	chr1:155119865-155119866	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs71628648	chr1:155119876-155119877	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs201339021	chr1:155119889-155119890	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs146441139	chr1:155119890-155119891	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs371104526	chr1:155119891-155119892	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs202116095	chr1:155119892-155119893	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs371576190	chr1:155119893-155119894	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs111439713	chr1:155119903-155119904	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs374074457	chr1:155119916-155119917	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs375026798	chr1:155119917-155119918	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369650246	chr1:155119918-155119919	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs368080748	chr1:155119920-155119921	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155118600-155119200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:155120800-155121200	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:155120800-155123000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:155121000-155121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:155121000-155123000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:155121200-155123200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:155121800-155123000	Enhancers	GM12878-XiMat	blood
8	chr1:155121800-155124400	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:155122000-155122200	Enhancers	Fetal Thymus	thymus
10	chr1:155122200-155122400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr1:155122600-155124800	Enhancers	Primary B cells from cord blood	blood
12	chr1:155123200-155123800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:155131400-155132200	Enhancers	Placenta	Placenta
14	chr1:155131400-155132600	Enhancers	HepG2	liver
15	chr1:155132600-155133000	Bivalent Enhancer	HepG2	liver
16	chr1:155134200-155145000	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links