Variant report

Variant	nsv872710
Chromosome Location	chr1:189512884-189695297
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	chr1:189576379-189576601	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:189655218-189655237	K562	blood:	n/a	n/a
3	ATF1	chr1:189645110-189645131	K562	blood:	n/a	n/a
4	ATF1	chr1:189692607-189692756	K562	blood:	n/a	n/a
5	ATF3	chr1:189624065-189624449	HCT-116	colon:	n/a	n/a
6	ATF3	chr1:189576142-189576647	A549	lung:	n/a	n/a
7	BACH1	chr1:189660033-189660067	K562	blood:	n/a	n/a
8	BATF	chr1:189565411-189565576	GM12878	blood:	n/a	chr1:189565508-189565518
9	BCL3	chr1:189575858-189576821	A549	lung:	n/a	n/a
10	BCL3	chr1:189650561-189651101	A549	lung:	n/a	n/a
11	BRCA1	chr1:189588843-189589197	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:189640354-189640407	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr1:189631264-189631803	HCT-116	colon:	n/a	n/a
14	CBX3	chr1:189627431-189627982	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:189588763-189589390	HCT-116	colon:	n/a	n/a
16	CBX3	chr1:189588801-189589528	HCT-116	colon:	n/a	n/a
17	CBX3	chr1:189631288-189631734	HCT-116	colon:	n/a	n/a
18	CBX3	chr1:189626762-189627309	HCT-116	colon:	n/a	n/a
19	CEBPB	chr1:189565794-189565847	A549	lung:	n/a	n/a
20	CEBPB	chr1:189624011-189624388	Hela-S3	cervix:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
21	CEBPB	chr1:189626911-189627214	MCF-7	breast:	n/a	n/a
22	CEBPB	chr1:189624035-189624369	K562	blood:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
23	CEBPB	chr1:189651781-189651981	A549	lung:	n/a	n/a
24	CEBPB	chr1:189572738-189572984	A549	lung:	n/a	chr1:189572877-189572890 chr1:189572878-189572889 chr1:189572877-189572888 chr1:189572879-189572888
25	CEBPB	chr1:189606174-189606516	A549	lung:	n/a	chr1:189606323-189606334
26	CEBPB	chr1:189532904-189533307	A549	lung:	n/a	chr1:189533086-189533097
27	CEBPB	chr1:189532941-189533310	IMR90	lung:	n/a	chr1:189533086-189533097
28	CEBPB	chr1:189675218-189675345	A549	lung:	n/a	chr1:189675255-189675266
29	CEBPB	chr1:189626736-189627414	HCT-116	colon:	n/a	chr1:189627200-189627217
30	CEBPB	chr1:189626896-189627281	A549	lung:	n/a	chr1:189627200-189627217
31	CEBPB	chr1:189646472-189646806	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:189532953-189533311	A549	lung:	n/a	chr1:189533086-189533097
33	CEBPB	chr1:189689001-189689131	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:189519100-189519291	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:189558442-189558746	A549	lung:	n/a	chr1:189558577-189558588
36	CEBPB	chr1:189624014-189624396	IMR90	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
37	CEBPB	chr1:189604468-189604766	A549	lung:	n/a	n/a
38	CEBPB	chr1:189519040-189519327	IMR90	lung:	n/a	n/a
39	CEBPB	chr1:189572754-189573023	HepG2	liver:	n/a	chr1:189572877-189572890 chr1:189572878-189572889 chr1:189572877-189572888 chr1:189572879-189572888
40	CEBPB	chr1:189624089-189624306	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
41	CEBPB	chr1:189624041-189624385	HepG2	liver:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
42	CEBPB	chr1:189688196-189688361	H1-hESC	embryonic stem cell:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
43	CEBPB	chr1:189623953-189624457	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
44	CEBPB	chr1:189558439-189558729	HepG2	liver:	n/a	chr1:189558577-189558588
45	CEBPB	chr1:189553909-189554210	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:189626892-189627296	A549	lung:	n/a	chr1:189627200-189627217
47	CEBPB	chr1:189586083-189586474	A549	lung:	n/a	n/a
48	CEBPB	chr1:189623883-189624474	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
49	CEBPB	chr1:189688868-189689176	MCF-7	breast:	n/a	n/a
50	CEBPB	chr1:189586073-189586515	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
2	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
3	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
4	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
5	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
6	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
7	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
8	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
9	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
10	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
11	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
12	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
13	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
14	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
15	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
16	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
17	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
18	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
19	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
20	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
21	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
22	chr1:189630297..189631878-chr1:189633078..189635794,2	K562	blood:
23	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
24	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
25	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
26	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
27	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
28	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
29	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
30	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
31	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
32	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:

Variant related genes	Relation type
RNA5SP73	TF binding region
ENSG00000113194	chromatin interactions
ENSG00000252553	chromatin interactions

Extended variants
information (count: 2433 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2433 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530152819	chr1:189519027-189519028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189230736	chr1:189519051-189519052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147438379	chr1:189519116-189519117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71127679	chr1:189519130-189519131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59294412	chr1:189519132-189519133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546667107	chr1:189519176-189519177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370370467	chr1:189519202-189519203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568749802	chr1:189519206-189519207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566977044	chr1:189519209-189519210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181985087	chr1:189519211-189519212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558004430	chr1:189519250-189519251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71637208	chr1:189519272-189519273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186318517	chr1:189519301-189519302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536828439	chr1:189519304-189519305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377609584	chr1:189519344-189519345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs269726	chr1:189519373-189519374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542619427	chr1:189519402-189519403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140671296	chr1:189519439-189519440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572626096	chr1:189519466-189519467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10922224	chr1:189519474-189519475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564625010	chr1:189519578-189519579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35911547	chr1:189523802-189523803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566028991	chr1:189523859-189523860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16830750	chr1:189523913-189523914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557689855	chr1:189523970-189523971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558576738	chr1:189523974-189523975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537518729	chr1:189524053-189524054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367611947	chr1:189524072-189524073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75086310	chr1:189524076-189524077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576215261	chr1:189524094-189524095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76542698	chr1:189524119-189524120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147066568	chr1:189524123-189524124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75421854	chr1:189524125-189524126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572332198	chr1:189524131-189524132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11804370	chr1:189524135-189524136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564045827	chr1:189524163-189524164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12733678	chr1:189524165-189524166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549879498	chr1:189524188-189524189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563213800	chr1:189524192-189524193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74849200	chr1:189524271-189524272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529536383	chr1:189524279-189524280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549154848	chr1:189524282-189524283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373271962	chr1:189524359-189524360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549658677	chr1:189524384-189524385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112672901	chr1:189524392-189524393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34948664	chr1:189524393-189524394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141763461	chr1:189524394-189524395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142806912	chr1:189524400-189524401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565914365	chr1:189525419-189525420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534785215	chr1:189525442-189525443	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189519000-189519600	Enhancers	Fetal Brain Male	brain
2	chr1:189523800-189524400	Enhancers	Fetal Lung	lung
3	chr1:189525400-189525600	Enhancers	Esophagus	oesophagus
4	chr1:189525400-189525600	Enhancers	Pancreas	Pancrea
5	chr1:189552200-189553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:189555200-189555400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:189565200-189566800	Enhancers	HUVEC	blood vessel
8	chr1:189566400-189566800	Active TSS	A549	lung
9	chr1:189574200-189575400	Enhancers	A549	lung
10	chr1:189574200-189576600	Enhancers	Hela-S3	cervix
11	chr1:189574200-189577200	Enhancers	HMEC	breast
12	chr1:189574400-189574600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:189574800-189575800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:189575200-189575600	Enhancers	Fetal Brain Male	brain
15	chr1:189575400-189576200	Flanking Active TSS	A549	lung
16	chr1:189575800-189576800	Enhancers	NH-A	brain
17	chr1:189575800-189578800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:189576000-189576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:189576200-189576400	Active TSS	A549	lung
20	chr1:189576400-189576600	Flanking Active TSS	A549	lung
21	chr1:189576600-189576800	Active TSS	A549	lung
22	chr1:189576600-189577000	Enhancers	Osteobl	bone
23	chr1:189576800-189577400	Flanking Active TSS	A549	lung
24	chr1:189577400-189578200	Enhancers	A549	lung
25	chr1:189578000-189578600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:189578000-189578800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:189578200-189578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:189578200-189578600	Genic enhancers	A549	lung
29	chr1:189578600-189585000	Weak transcription	A549	lung
30	chr1:189585000-189587000	Enhancers	A549	lung
31	chr1:189585600-189587000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:189586000-189586400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:189586000-189586400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:189586000-189586400	Enhancers	HMEC	breast
35	chr1:189586000-189586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:189586400-189588800	Weak transcription	HMEC	breast
37	chr1:189586400-189589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:189586600-189588600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:189587000-189588200	Weak transcription	A549	lung
40	chr1:189587000-189588600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:189588200-189588800	Enhancers	A549	lung
42	chr1:189588600-189589600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:189588600-189589600	Enhancers	HUVEC	blood vessel
44	chr1:189588600-189589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:189588800-189589000	Active TSS	A549	lung
46	chr1:189588800-189589400	Enhancers	NHEK	skin
47	chr1:189588800-189589800	Enhancers	HMEC	breast
48	chr1:189589000-189589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:189589000-189589400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:189589000-189589400	Flanking Active TSS	A549	lung

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