Variant report

Variant	nsv872645
Chromosome Location	chr1:188967356-189117170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:188967459-188967540	K562	blood:	n/a	n/a
2	CBX3	chr1:189094793-189095258	HCT-116	colon:	n/a	n/a
3	CEBPB	chr1:188969322-188969657	IMR90	lung:	n/a	chr1:188969500-188969511
4	CEBPB	chr1:188969376-188969576	K562	blood:	n/a	chr1:188969500-188969511
5	CEBPB	chr1:188996683-188997070	Hela-S3	cervix:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
6	CEBPB	chr1:189015259-189015572	A549	lung:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
7	CEBPB	chr1:188984517-188984825	A549	lung:	n/a	chr1:188984670-188984681
8	CEBPB	chr1:189055124-189055368	A549	lung:	n/a	n/a
9	CEBPB	chr1:188984499-188984820	HepG2	liver:	n/a	chr1:188984670-188984681
10	CEBPB	chr1:189015228-189015573	IMR90	lung:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
11	CEBPB	chr1:188998528-188998788	A549	lung:	n/a	n/a
12	CEBPB	chr1:188984512-188984824	IMR90	lung:	n/a	chr1:188984670-188984681
13	CEBPB	chr1:188996688-188997020	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
14	CEBPB	chr1:189015268-189015468	H1-hESC	embryonic stem cell:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
15	CEBPB	chr1:188996654-188997063	ECC-1	luminal epithelium:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
16	CEBPB	chr1:188969395-188969554	A549	lung:	n/a	chr1:188969500-188969511
17	CEBPB	chr1:189015255-189015563	K562	blood:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
18	CEBPB	chr1:188996687-188997065	IMR90	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
19	CEBPB	chr1:189015218-189015571	Hela-S3	cervix:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
20	CEBPB	chr1:189038175-189038498	HepG2	liver:	n/a	chr1:189038330-189038343 chr1:189038331-189038342 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341
21	CEBPB	chr1:188996676-188997003	MCF-7	breast:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
22	CEBPB	chr1:188996578-188997249	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
23	CEBPB	chr1:188990601-188991154	A549	lung:	n/a	chr1:188990820-188990833
24	CEBPB	chr1:188996699-188997084	ECC-1	luminal epithelium:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
25	CEBPB	chr1:189038196-189038503	A549	lung:	n/a	chr1:189038330-189038343 chr1:189038331-189038342 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341
26	CEBPB	chr1:189022503-189022761	A549	lung:	n/a	n/a
27	CEBPB	chr1:188996669-188997064	H1-hESC	embryonic stem cell:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
28	CEBPB	chr1:188996683-188997056	HepG2	liver:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
29	CEBPB	chr1:189022473-189022756	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:188984681-188984698	K562	blood:	n/a	n/a
31	CEBPB	chr1:188969322-188969673	HepG2	liver:	n/a	chr1:188969500-188969511
32	CEBPB	chr1:188996604-188997110	MCF-7	breast:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
33	CEBPB	chr1:188967502-188967750	H1-hESC	embryonic stem cell:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
34	CEBPB	chr1:188969492-188969518	H1-hESC	embryonic stem cell:	n/a	chr1:188969500-188969511
35	CEBPB	chr1:188967494-188967801	HepG2	liver:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
36	CEBPB	chr1:189038213-189038480	K562	blood:	n/a	chr1:189038330-189038343 chr1:189038331-189038342 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341
37	CEBPB	chr1:189015222-189015587	HepG2	liver:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
38	CEBPB	chr1:188967506-188967795	IMR90	lung:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
39	CEBPB	chr1:188996686-188997062	K562	blood:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
40	CEBPB	chr1:188996683-188997077	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
41	CEBPB	chr1:189038185-189038511	IMR90	lung:	n/a	chr1:189038330-189038343 chr1:189038331-189038342 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341 chr1:189038332-189038341
42	CHD2	chr1:189109985-189110031	K562	blood:	n/a	n/a
43	CTCF	chr1:189022520-189022670	AG09319	gingival:	n/a	n/a
44	CTCF	chr1:188982520-188982670	AG10803	skin:	n/a	n/a
45	CTCF	chr1:189061934-189062038	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr1:189080056-189080085	GM10248	blood:	n/a	n/a
47	CTCF	chr1:189070334-189070403	Lung_OC	lung:	n/a	n/a
48	CTCF	chr1:188992115-188992166	GM13977	blood:	n/a	n/a
49	CTCF	chr1:189054679-189055027	MCF-7	breast:	n/a	chr1:189054854-189054875
50	CTCF	chr1:188969060-188969092	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:188975384..188977741-chr1:188982777..188984574,2	K562	blood:
2	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
3	chr1:187897177..187897914-chr1:189054892..189055529,2	MCF-7	breast:
4	chr1:188975384..188977741-chr1:188982777..188984574,2	K562	blood:
5	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
6	chr1:189027854..189030529-chr1:189039062..189041811,2	K562	blood:
7	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
8	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
9	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
10	chr1:189009261..189011290-chr1:189013451..189014951,2	K562	blood:
11	chr1:189032912..189034690-chr1:189118689..189120245,2	K562	blood:
12	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
13	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
14	chr1:189009261..189011290-chr1:189013451..189014951,2	K562	blood:
15	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
16	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
17	chr1:188973723..188976058-chr1:189233583..189235147,2	K562	blood:
18	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
19	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
20	chr1:189110161..189112248-chr17:56736351..56738349,2	MCF-7	breast:
21	chr1:189027854..189030529-chr1:189039062..189041811,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-17	chr1:189035554-189037410	refGeneNc_416_NR_033922
2	lnc-PLA2G4A-6	chr1:189005849-189006393	ENSG00000226486
3	lnc-FAM5C-14	chr1:189005092-189005575	NONHSAT008482
4	lnc-PLA2G4A-17	chr1:188974191-188974263	refGeneNc_416_NR_033922
5	lnc-PLA2G4A-17	chr1:189029259-189029349	refGeneNc_416_NR_033922
6	lnc-PLA2G4A-17	chr1:189027267-189027316	refGeneNc_416_NR_033922

Variant related genes	Relation type
CLPTM1LP1	TF binding region
ENSG00000226196	TF binding region
ENSG00000202077	chromatin interactions

Extended variants
information (count: 1281 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150877106	chr1:188974201-188974202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10754000	chr1:188974213-188974214	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573023205	chr1:188974237-188974238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371695326	chr1:188990037-188990038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570346049	chr1:188990038-188990039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571356631	chr1:188990056-188990057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531655771	chr1:188990108-188990109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200178262	chr1:188990122-188990123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141496349	chr1:188990132-188990133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11805145	chr1:188990139-188990140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142630548	chr1:188990226-188990227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146376877	chr1:188990235-188990236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10921090	chr1:188990343-188990344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552962248	chr1:188990353-188990354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185166030	chr1:188990356-188990357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189922945	chr1:188990421-188990422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535902943	chr1:188990454-188990455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34262552	chr1:188990455-188990456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369417794	chr1:188990460-188990461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565075725	chr1:188990489-188990490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575330485	chr1:188990494-188990495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544251904	chr1:188990510-188990511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560955651	chr1:188990518-188990519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180984940	chr1:188990532-188990533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554562717	chr1:188990546-188990547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138986441	chr1:188990577-188990578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560609289	chr1:188990579-188990580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532782611	chr1:188990593-188990594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552801433	chr1:188990615-188990616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185652327	chr1:188990676-188990677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143125731	chr1:188990718-188990719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113081009	chr1:188990788-188990789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376420333	chr1:188990789-188990790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567290189	chr1:188990833-188990834	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535848328	chr1:188990847-188990848	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553263756	chr1:188990869-188990870	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191354389	chr1:188990940-188990941	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183676051	chr1:188990963-188990964	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558334156	chr1:188991004-188991005	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577503916	chr1:188991045-188991046	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532954456	chr1:188991065-188991066	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544313755	chr1:188991083-188991084	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554623315	chr1:188991088-188991089	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188392231	chr1:188991125-188991126	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540256629	chr1:188991167-188991168	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541690762	chr1:188991180-188991181	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560888022	chr1:188991188-188991189	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192129326	chr1:188991196-188991197	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200401231	chr1:188991199-188991200	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563092843	chr1:188991221-188991222	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188990000-188990800	Enhancers	A549	lung
2	chr1:188990800-188991200	Flanking Active TSS	A549	lung
3	chr1:188991200-188991800	Enhancers	A549	lung
4	chr1:188991800-188996400	Weak transcription	A549	lung
5	chr1:188996400-188996600	Active TSS	A549	lung
6	chr1:188996600-188996800	Flanking Active TSS	A549	lung
7	chr1:188996800-188997000	Enhancers	A549	lung
8	chr1:189008000-189008600	Enhancers	Fetal Lung	lung
9	chr1:189015400-189015800	Enhancers	Fetal Brain Female	brain
10	chr1:189044400-189045000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:189055000-189055600	Enhancers	Fetal Brain Male	brain
12	chr1:189091000-189092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:189091200-189091800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:189098000-189102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:189106200-189110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:189110400-189111000	ZNF genes & repeats	Pancreas	Pancrea
17	chr1:189110600-189111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:189111000-189118800	Weak transcription	Pancreas	Pancrea
19	chr1:189115600-189116600	Enhancers	Brain Germinal Matrix	brain

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