Variant report

Variant	nsv899366
Chromosome Location	chr12:84516512-84589672
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	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
3	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
5	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
6	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
7	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
9	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
11	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
12	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
15	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
16	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
17	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:84525980-84526130	AG10803	skin:	n/a	n/a
19	CTCF	chr12:84555180-84555330	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr12:84522089-84522142	GM20000	blood:	n/a	n/a
21	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
22	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:84526060-84526210	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr12:84555220-84555370	AG09319	gingival:	n/a	n/a
25	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
27	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
28	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
29	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
30	E2F4	chr12:84551976-84552117	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr12:84553066-84553293	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr12:84528734-84528934	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr12:84530131-84530653	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr12:84524840-84525144	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr12:84530887-84531192	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr12:84571702-84571850	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr12:84561788-84562273	SK-N-SH	brain:	n/a	chr12:84562212-84562226
40	EP300	chr12:84530563-84531199	Hela-S3	cervix:	n/a	chr12:84530655-84530664
41	EP300	chr12:84524367-84526360	SK-N-SH	brain:	n/a	n/a
42	EP300	chr12:84560383-84561002	ECC-1	luminal epithelium:	n/a	n/a
43	EP300	chr12:84550752-84551438	SK-N-SH	brain:	n/a	n/a
44	EP300	chr12:84530439-84531466	A549	lung:	n/a	chr12:84530655-84530664
45	EP300	chr12:84530336-84531443	SK-N-SH	brain:	n/a	chr12:84530655-84530664
46	EP300	chr12:84550862-84551420	SK-N-SH	brain:	n/a	n/a
47	EP300	chr12:84550667-84550772	K562	blood:	n/a	n/a
48	EP300	chr12:84530415-84531410	SK-N-SH	brain:	n/a	chr12:84530655-84530664
49	EP300	chr12:84530486-84531252	SK-N-SH_RA	brain:	n/a	chr12:84530655-84530664
50	EP300	chr12:84551027-84551247	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
2	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221148	TF binding region

Extended variants
information (count: 1330 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1330 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79668316	chr12:84522028-84522029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568487029	chr12:84522080-84522081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187211614	chr12:84522081-84522082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542738779	chr12:84522090-84522091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561397608	chr12:84522099-84522100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535457543	chr12:84522106-84522107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140290344	chr12:84522151-84522152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531829941	chr12:84522174-84522175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550300555	chr12:84522176-84522177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571854513	chr12:84522189-84522190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2170540	chr12:84522218-84522219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190053746	chr12:84522219-84522220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114083074	chr12:84522226-84522227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181789702	chr12:84522235-84522236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547996429	chr12:84522245-84522246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550183651	chr12:84522290-84522291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187112668	chr12:84522295-84522296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558678529	chr12:84522301-84522302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576773670	chr12:84522327-84522328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12230716	chr12:84522344-84522345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369772314	chr12:84522362-84522363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572122386	chr12:84522376-84522377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370170910	chr12:84522409-84522410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561226449	chr12:84522410-84522411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145305664	chr12:84522421-84522422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190164132	chr12:84522430-84522431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74106296	chr12:84522500-84522501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570093905	chr12:84522510-84522511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576552036	chr12:84522555-84522556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565478472	chr12:84522558-84522559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181430114	chr12:84522618-84522619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115734361	chr12:84522640-84522641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2170539	chr12:84522670-84522671	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536129365	chr12:84522794-84522795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548121727	chr12:84522803-84522804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569661411	chr12:84522810-84522811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2470384	chr12:84522898-84522899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs185284921	chr12:84522900-84522901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552114098	chr12:84522908-84522909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570296935	chr12:84522928-84522929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148004991	chr12:84522974-84522975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552867956	chr12:84522992-84522993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12813598	chr12:84522999-84523000	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568225924	chr12:84524431-84524432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4611285	chr12:84524446-84524447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4882408	chr12:84524451-84524452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569032013	chr12:84524482-84524483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188872801	chr12:84524516-84524517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77217866	chr12:84524519-84524520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373674153	chr12:84524533-84524534	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:84522600-84523000	Active TSS	Spleen	Spleen
3	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
6	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
9	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:84528800-84529000	Enhancers	NHEK	skin
11	chr12:84529000-84529800	Weak transcription	NHEK	skin
12	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
16	chr12:84529800-84531400	Enhancers	NHEK	skin
17	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
18	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
19	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:84543800-84544600	Enhancers	NHEK	skin
26	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:84559600-84560400	Enhancers	A549	lung
34	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:84566800-84567200	Enhancers	HMEC	breast
39	chr12:84567000-84569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:84577000-84577200	Enhancers	Fetal Heart	heart
41	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:84577000-84578000	Enhancers	NHEK	skin
44	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
46	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
47	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:84585200-84586400	Enhancers	HMEC	breast
49	chr12:84585600-84586400	Enhancers	NHEK	skin
50	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links