Variant report

Variant	nsv899367
Chromosome Location	chr12:84522670-84663298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
3	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
4	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
5	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
8	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
9	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
10	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
12	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
14	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
15	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
16	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
17	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
20	CTCF	chr12:84624180-84624330	HepG2	liver:	n/a	n/a
21	CTCF	chr12:84526060-84526210	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
23	CTCF	chr12:84525980-84526130	AG10803	skin:	n/a	n/a
24	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
25	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
26	CTCF	chr12:84634320-84634470	AG04450	lung:	n/a	n/a
27	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
30	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
31	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
32	CTCF	chr12:84634420-84634570	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr12:84555180-84555330	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
35	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:84555220-84555370	AG09319	gingival:	n/a	n/a
37	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
39	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
41	CTCF	chr12:84623960-84624110	BE2_C	brain:	n/a	n/a
42	E2F4	chr12:84553066-84553293	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr12:84571702-84571850	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr12:84639403-84639705	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr12:84524840-84525144	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr12:84551976-84552117	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr12:84638352-84638508	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr12:84528734-84528934	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr12:84530887-84531192	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
2	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
3	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
4	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
5	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
6	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
7	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
8	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
9	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region
ENSG00000257729	TF binding region
ENSG00000225499	chromatin interactions
ENSG00000204511	chromatin interactions

Extended variants
information (count: 1607 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1607 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2170539	chr12:84522670-84522671	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536129365	chr12:84522794-84522795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548121727	chr12:84522803-84522804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569661411	chr12:84522810-84522811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2470384	chr12:84522898-84522899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185284921	chr12:84522900-84522901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552114098	chr12:84522908-84522909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570296935	chr12:84522928-84522929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148004991	chr12:84522974-84522975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552867956	chr12:84522992-84522993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12813598	chr12:84522999-84523000	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568225924	chr12:84524431-84524432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4611285	chr12:84524446-84524447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4882408	chr12:84524451-84524452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569032013	chr12:84524482-84524483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188872801	chr12:84524516-84524517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77217866	chr12:84524519-84524520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373674153	chr12:84524533-84524534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535120617	chr12:84524561-84524562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553635951	chr12:84524651-84524652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368871072	chr12:84524713-84524714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574991014	chr12:84524728-84524729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542028622	chr12:84524738-84524739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557637696	chr12:84524774-84524775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34757437	chr12:84524791-84524792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547418127	chr12:84524792-84524793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563734026	chr12:84524843-84524844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528199541	chr12:84524891-84524892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539926589	chr12:84524904-84524905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561596096	chr12:84524931-84524932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529109878	chr12:84524935-84524936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191683912	chr12:84524945-84524946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11835420	chr12:84524991-84524992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533255543	chr12:84525026-84525027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539585517	chr12:84525028-84525029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570839020	chr12:84525057-84525058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534981501	chr12:84525105-84525106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374442556	chr12:84525111-84525112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568414376	chr12:84525150-84525151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142863636	chr12:84525167-84525168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557260010	chr12:84525203-84525204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370907862	chr12:84525211-84525212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79070275	chr12:84525281-84525282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77702243	chr12:84525297-84525298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183351070	chr12:84525301-84525302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187471007	chr12:84525329-84525330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191658633	chr12:84525368-84525369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10862823	chr12:84525374-84525375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116223355	chr12:84525375-84525376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576437872	chr12:84525433-84525434	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84522600-84523000	Active TSS	Spleen	Spleen
2	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
5	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
8	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:84528800-84529000	Enhancers	NHEK	skin
10	chr12:84529000-84529800	Weak transcription	NHEK	skin
11	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
15	chr12:84529800-84531400	Enhancers	NHEK	skin
16	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
17	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
18	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:84543800-84544600	Enhancers	NHEK	skin
25	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:84559600-84560400	Enhancers	A549	lung
33	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:84566800-84567200	Enhancers	HMEC	breast
38	chr12:84567000-84569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:84577000-84577200	Enhancers	Fetal Heart	heart
40	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:84577000-84578000	Enhancers	NHEK	skin
43	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
45	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
46	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:84585200-84586400	Enhancers	HMEC	breast
48	chr12:84585600-84586400	Enhancers	NHEK	skin
49	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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