Variant report

Variant	nsv872650
Chromosome Location	chr1:189013987-189128124
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	ARID3A	chr1:189118670-189118888	K562	blood:	n/a	n/a
2	ATF1	chr1:189118704-189119125	K562	blood:	n/a	n/a
3	BCLAF1	chr1:189118637-189119186	K562	blood:	n/a	n/a
4	BHLHE40	chr1:189118889-189119095	K562	blood:	n/a	n/a
5	CBX3	chr1:189094793-189095258	HCT-116	colon:	n/a	n/a
6	CBX3	chr1:189118641-189119561	K562	blood:	n/a	n/a
7	CBX3	chr1:189118747-189119060	K562	blood:	n/a	n/a
8	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
9	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
10	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
11	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
12	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
13	CEBPB	chr1:189118636-189118957	K562	blood:	n/a	n/a
14	CEBPB	chr1:189022503-189022761	A549	lung:	n/a	n/a
15	CEBPB	chr1:189022473-189022756	IMR90	lung:	n/a	n/a
16	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
17	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
18	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
19	CEBPB	chr1:189118695-189119077	K562	blood:	n/a	n/a
20	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
21	CEBPB	chr1:189055124-189055368	A549	lung:	n/a	n/a
22	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
23	CEBPD	chr1:189118669-189119222	K562	blood:	n/a	n/a
24	CHD2	chr1:189109985-189110031	K562	blood:	n/a	n/a
25	CHD2	chr1:189118851-189119132	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr1:189118857-189119073	K562	blood:	n/a	n/a
27	CREB1	chr1:189118777-189119112	A549	lung:	n/a	n/a
28	CTCF	chr1:189118960-189119110	GM12869	blood:	n/a	n/a
29	CTCF	chr1:189118790-189119208	K562	blood:	n/a	n/a
30	CTCF	chr1:189119020-189119170	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr1:189118925-189119141	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:189118927-189119176	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:189118908-189119166	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:189118980-189119130	GM12875	blood:	n/a	n/a
35	CTCF	chr1:189118834-189119203	A549	lung:	n/a	n/a
36	CTCF	chr1:189119000-189119094	NHEK	skin:	n/a	n/a
37	CTCF	chr1:189119022-189119130	LNCaP	prostate:	n/a	n/a
38	CTCF	chr1:189118960-189119110	HepG2	liver:	n/a	n/a
39	CTCF	chr1:189118888-189119250	GM12878	blood:	n/a	n/a
40	CTCF	chr1:189088177-189088196	GM20000	blood:	n/a	n/a
41	CTCF	chr1:189118980-189119130	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr1:189119020-189119170	GM12878	blood:	n/a	n/a
43	CTCF	chr1:189118980-189119130	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:189118871-189119124	A549	lung:	n/a	n/a
45	CTCF	chr1:189118833-189119271	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:189118960-189119110	NB4	blood:	n/a	n/a
47	CTCF	chr1:189119300-189119450	K562	blood:	n/a	n/a
48	CTCF	chr1:189118958-189119138	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:189119000-189119096	GM13977	blood:	n/a	n/a
50	CTCF	chr1:189054780-189054930	MCF-7	breast:	n/a	chr1:189054854-189054875

No.	Distal block	Cell Line	Cell type
1	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
2	chr1:188751072..188751772-chr1:189118548..189119200,2	MCF-7	breast:
3	chr1:187897177..187897914-chr1:189054892..189055529,2	MCF-7	breast:
4	chr1:189117659..189120234-chr6:30584654..30587422,2	K562	blood:
5	chr1:189027854..189030529-chr1:189039062..189041811,2	K562	blood:
6	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
7	chr1:189032912..189034690-chr1:189118689..189120245,2	K562	blood:
8	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
9	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
10	chr1:189118758..189120623-chr1:189121928..189123602,2	MCF-7	breast:
11	chr1:189117897..189121261-chr1:189121594..189126238,14	K562	blood:
12	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
13	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
14	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
15	chr1:188902220..188904596-chr1:189118871..189120838,2	K562	blood:
16	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
17	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
18	chr1:189117897..189121261-chr1:189121594..189126238,14	K562	blood:
19	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
20	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
21	chr1:188432976..188433772-chr1:189118543..189119245,2	MCF-7	breast:
22	chr1:189117678..189120245-chr1:189847842..189850269,2	K562	blood:
23	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
24	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
25	chr1:189118996..189121109-chr1:189287929..189290792,2	K562	blood:
26	chr1:189009261..189011290-chr1:189013451..189014951,2	K562	blood:
27	chr1:189117456..189122192-chr1:189126377..189132093,10	K562	blood:
28	chr1:189117472..189119445-chr1:189184383..189186495,2	K562	blood:
29	chr1:189118692..189120237-chr1:189161776..189163535,2	K562	blood:
30	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
31	chr1:189110161..189112248-chr17:56736351..56738349,2	MCF-7	breast:
32	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
33	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
34	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
35	chr1:189118758..189120623-chr1:189121928..189123602,2	MCF-7	breast:
36	chr1:189032912..189034690-chr1:189118689..189120245,2	K562	blood:
37	chr1:189117456..189122192-chr1:189126377..189132093,10	K562	blood:
38	chr1:189027854..189030529-chr1:189039062..189041811,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-7	chr1:189119674-189119918	NONHSAT008484
2	lnc-PLA2G4A-17	chr1:189035554-189037410	refGeneNc_416_NR_033922
3	lnc-PLA2G4A-7	chr1:189118917-189119007	XLOC_000502
4	lnc-PLA2G4A-17	chr1:189029259-189029349	refGeneNc_416_NR_033922
5	lnc-PLA2G4A-7	chr1:189119673-189119860	XLOC_000502
6	lnc-PLA2G4A-17	chr1:189027267-189027316	refGeneNc_416_NR_033922

Variant related genes	Relation type
ENSG00000226196	TF binding region
ENSG00000202077	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 1078 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568559542	chr1:189015409-189015410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78890462	chr1:189015422-189015423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12139669	chr1:189015562-189015563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537742162	chr1:189015567-189015568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554509712	chr1:189015568-189015569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74138931	chr1:189015588-189015589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540494003	chr1:189015616-189015617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112872026	chr1:189015641-189015642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577099718	chr1:189015695-189015696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529891043	chr1:189015698-189015699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546364025	chr1:189015709-189015710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193097800	chr1:189015713-189015714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531796926	chr1:189015745-189015746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541873029	chr1:189015774-189015775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530585474	chr1:189029303-189029304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs577010628	chr1:189035584-189035585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs549155570	chr1:189035611-189035612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs371968701	chr1:189035665-189035666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs565773376	chr1:189035672-189035673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540768373	chr1:189035675-189035676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs149719195	chr1:189035684-189035685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs560120983	chr1:189035705-189035706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111234359	chr1:189035748-189035749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs557650992	chr1:189035750-189035751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs577181734	chr1:189035802-189035803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs10754018	chr1:189035810-189035811	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556589473	chr1:189035815-189035816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs371699491	chr1:189035838-189035839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs573676312	chr1:189035839-189035840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs527446585	chr1:189035873-189035874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs145670211	chr1:189035883-189035884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs148892993	chr1:189035894-189035895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551642491	chr1:189035916-189035917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs10921203	chr1:189035931-189035932	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530880080	chr1:189035953-189035954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs10754019	chr1:189035964-189035965	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182351774	chr1:189036011-189036012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs117642798	chr1:189036018-189036019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546808428	chr1:189036042-189036043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs542966318	chr1:189036091-189036092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs186837461	chr1:189036131-189036132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191706097	chr1:189036146-189036147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs377001941	chr1:189036157-189036158	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551217846	chr1:189036197-189036198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs571208612	chr1:189036200-189036201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536994655	chr1:189036270-189036271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556529906	chr1:189036304-189036305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143448187	chr1:189036317-189036318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs137869346	chr1:189036330-189036331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552809174	chr1:189036332-189036333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189015400-189015800	Enhancers	Fetal Brain Female	brain
2	chr1:189044400-189045000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189055000-189055600	Enhancers	Fetal Brain Male	brain
4	chr1:189091000-189092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:189091200-189091800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:189098000-189102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:189106200-189110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:189110400-189111000	ZNF genes & repeats	Pancreas	Pancrea
9	chr1:189110600-189111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:189111000-189118800	Weak transcription	Pancreas	Pancrea
11	chr1:189115600-189116600	Enhancers	Brain Germinal Matrix	brain
12	chr1:189118400-189120000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:189118800-189119200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:189118800-189119200	Active TSS	Liver	Liver
15	chr1:189118800-189119200	Active TSS	Gastric	stomach
16	chr1:189118800-189119400	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:189118800-189119400	Active TSS	Fetal Intestine Large	intestine
18	chr1:189118800-189119400	ZNF genes & repeats	Pancreas	Pancrea
19	chr1:189118800-189119400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:189118800-189120200	Active TSS	A549	lung
21	chr1:189118800-189121800	Active TSS	K562	blood
22	chr1:189127200-189127600	Active TSS	K562	blood

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