Variant report

Variant	nsv548488
Chromosome Location	chr1:188994596-189117170
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	CBX3	chr1:189094793-189095258	HCT-116	colon:	n/a	n/a
2	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
3	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
4	CEBPB	chr1:189022503-189022761	A549	lung:	n/a	n/a
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	CEBPB	chr1:189022473-189022756	IMR90	lung:	n/a	n/a
15	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
16	CEBPB	chr1:188998528-188998788	A549	lung:	n/a	n/a
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	CEBPB	chr1:189055124-189055368	A549	lung:	n/a	n/a
26	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
27	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
28	CHD2	chr1:189109985-189110031	K562	blood:	n/a	n/a
29	CTCF	chr1:189088177-189088196	GM20000	blood:	n/a	n/a
30	CTCF	chr1:189054696-189055012	MCF-7	breast:	n/a	chr1:189054854-189054875
31	CTCF	chr1:189070334-189070403	Lung_OC	lung:	n/a	n/a
32	CTCF	chr1:189054645-189055127	HCT-116	colon:	n/a	chr1:189054854-189054875
33	CTCF	chr1:189080056-189080085	GM10248	blood:	n/a	n/a
34	CTCF	chr1:189054720-189054870	RPTEC	kidney:	n/a	n/a
35	CTCF	chr1:189061917-189062041	GM10248	blood:	n/a	n/a
36	CTCF	chr1:189054679-189055027	MCF-7	breast:	n/a	chr1:189054854-189054875
37	CTCF	chr1:189047540-189047690	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr1:189053184-189053269	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr1:189054780-189054930	MCF-7	breast:	n/a	chr1:189054854-189054875
40	CTCF	chr1:189011480-189011630	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr1:189071260-189071410	GM12873	blood:	n/a	n/a
42	CTCF	chr1:189102891-189102940	GM20000	blood:	n/a	n/a
43	CTCF	chr1:189022520-189022670	AG09319	gingival:	n/a	n/a
44	CTCF	chr1:189061934-189062038	Kidney_OC	kidney:	n/a	n/a
45	CUX1	chr1:189059262-189059290	GM12878	blood:	n/a	n/a
46	E2F4	chr1:189013753-189013943	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr1:189104470-189105034	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr1:188998667-188998874	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr1:189105673-189105827	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr1:189094601-189094715	MCF10A-Er-Src	breast:	n/a	n/a

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

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

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

Extended variants
information (count: 1048 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10921102	chr1:188994596-188994597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183081703	chr1:188994620-188994621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200514526	chr1:188994656-188994657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553232920	chr1:188994659-188994660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188364097	chr1:188994667-188994668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192105451	chr1:188994696-188994697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10921103	chr1:188994721-188994722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184703033	chr1:188994761-188994762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189462507	chr1:188994762-188994763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192534632	chr1:188994811-188994812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184285858	chr1:188994841-188994842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200064304	chr1:188994853-188994854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530783030	chr1:188994864-188994865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117200224	chr1:188994905-188994906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561407340	chr1:188994925-188994926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189238492	chr1:188994929-188994930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367699840	chr1:188994960-188994961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199656727	chr1:188994965-188994966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200950537	chr1:188994967-188994968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201635941	chr1:188994970-188994971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199654643	chr1:188994971-188994972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200915371	chr1:188994972-188994973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113345830	chr1:188994994-188994995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546875599	chr1:188995002-188995003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112711743	chr1:188995093-188995094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113330861	chr1:188995111-188995112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10921105	chr1:188995149-188995150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528211785	chr1:188995231-188995232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186268164	chr1:188995291-188995292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190004070	chr1:188995303-188995304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537030652	chr1:188995310-188995311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557264596	chr1:188995313-188995314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567448010	chr1:188995364-188995365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536502134	chr1:188995415-188995416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538375160	chr1:188995417-188995418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552898698	chr1:188995472-188995473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572664848	chr1:188995485-188995486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556662768	chr1:188995510-188995511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545117901	chr1:188995537-188995538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558602380	chr1:188995556-188995557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181547182	chr1:188995559-188995560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7538991	chr1:188995584-188995585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs7552171	chr1:188995612-188995613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561671359	chr1:188995626-188995627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530330611	chr1:188995651-188995652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150935619	chr1:188995665-188995666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575684580	chr1:188995717-188995718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560690554	chr1:188995765-188995766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532731418	chr1:188995821-188995822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546142968	chr1:188996004-188996005	Weak transcription	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:16 , 50 per page) page: 1

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

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