Variant report

Variant	nsv899364
Chromosome Location	chr12:84480291-84663298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:481)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
2	CEBPB	chr12:84497837-84498179	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
4	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
5	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
6	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
7	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
8	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
9	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
10	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
11	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
14	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
16	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
18	CEBPB	chr12:84508382-84508565	H1-hESC	embryonic stem cell:	n/a	chr12:84508538-84508549
19	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:84508374-84508677	HepG2	liver:	n/a	chr12:84508538-84508549
21	CTCF	chr12:84501525-84501533	K562	blood:	n/a	n/a
22	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr12:84525980-84526130	AG10803	skin:	n/a	n/a
24	CTCF	chr12:84526060-84526210	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
26	CTCF	chr12:84623960-84624110	BE2_C	brain:	n/a	n/a
27	CTCF	chr12:84624180-84624330	HepG2	liver:	n/a	n/a
28	CTCF	chr12:84522089-84522142	GM20000	blood:	n/a	n/a
29	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
30	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
31	CTCF	chr12:84501460-84501610	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
33	CTCF	chr12:84493501-84493577	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr12:84509040-84509190	BE2_C	brain:	n/a	n/a
35	CTCF	chr12:84501515-84501558	HepG2	liver:	n/a	n/a
36	CTCF	chr12:84555180-84555330	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
39	CTCF	chr12:84511860-84512010	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
41	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
43	CTCF	chr12:84511920-84512070	A549	lung:	n/a	n/a
44	CTCF	chr12:84501420-84501570	HEK293	kidney:	n/a	n/a
45	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
47	CTCF	chr12:84509100-84509250	HMF	breast:	n/a	n/a
48	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:84501500-84501650	HMEC	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
2	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
3	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
4	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
5	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
6	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
7	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
8	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
9	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
10	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:

No data

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

Extended variants
information (count: 2422 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2422 , 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	rs2128351	chr12:84480291-84480292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571794466	chr12:84480297-84480298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542677039	chr12:84480298-84480299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2128350	chr12:84480322-84480323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535626427	chr12:84480372-84480373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75425165	chr12:84480406-84480407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74614167	chr12:84480438-84480439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565179665	chr12:84480494-84480495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572306150	chr12:84480543-84480544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191200663	chr12:84480544-84480545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372641634	chr12:84480595-84480596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7960996	chr12:84480619-84480620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6539814	chr12:84480626-84480627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79978296	chr12:84480679-84480680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369762500	chr12:84480716-84480717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183683512	chr12:84480750-84480751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189076456	chr12:84480834-84480835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191979138	chr12:84480879-84480880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182931829	chr12:84480904-84480905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187483353	chr12:84480931-84480932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553331636	chr12:84481001-84481002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565300955	chr12:84481008-84481009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572330583	chr12:84481058-84481059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112950185	chr12:84481065-84481066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77982347	chr12:84481067-84481068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185058834	chr12:84481121-84481122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543591908	chr12:84481141-84481142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116071563	chr12:84481152-84481153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73357400	chr12:84481178-84481179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189133093	chr12:84481229-84481230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560494812	chr12:84481277-84481278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192725682	chr12:84481319-84481320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527646931	chr12:84481347-84481348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542761153	chr12:84481394-84481395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371105593	chr12:84481446-84481447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561430620	chr12:84481473-84481474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76860070	chr12:84481489-84481490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375614984	chr12:84481502-84481503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571636845	chr12:84481529-84481530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144124716	chr12:84481534-84481535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59111763	chr12:84481536-84481537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532679810	chr12:84481573-84481574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547643289	chr12:84481615-84481616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565339585	chr12:84481652-84481653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536240912	chr12:84481676-84481677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141687781	chr12:84481679-84481680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569714465	chr12:84481733-84481734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536875372	chr12:84481743-84481744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112084982	chr12:84481764-84481765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558807931	chr12:84481818-84481819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
2	chr12:84485400-84486400	Enhancers	Esophagus	oesophagus
3	chr12:84485400-84486600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:84485600-84485800	ZNF genes & repeats	Pancreas	Pancrea
5	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
10	chr12:84510400-84510800	Enhancers	A549	lung
11	chr12:84510800-84511000	Active TSS	A549	lung
12	chr12:84511000-84511200	Flanking Active TSS	A549	lung
13	chr12:84511200-84511400	Active TSS	A549	lung
14	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:84522600-84523000	Active TSS	Spleen	Spleen
16	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
19	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
22	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:84528800-84529000	Enhancers	NHEK	skin
24	chr12:84529000-84529800	Weak transcription	NHEK	skin
25	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
29	chr12:84529800-84531400	Enhancers	NHEK	skin
30	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
31	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
32	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:84543800-84544600	Enhancers	NHEK	skin
39	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr12:84559600-84560400	Enhancers	A549	lung
47	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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