Variant report

Variant	nsv559576
Chromosome Location	chr12:84489579-84596635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:383)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:383 , 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	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
2	CEBPB	chr12:84508382-84508565	H1-hESC	embryonic stem cell:	n/a	chr12:84508538-84508549
3	CEBPB	chr12:84497837-84498179	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
6	CEBPB	chr12:84508374-84508677	HepG2	liver:	n/a	chr12:84508538-84508549
7	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
8	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
9	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
11	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
12	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
13	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
14	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
17	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
19	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr12:84501460-84501610	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:84555180-84555330	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
23	CTCF	chr12:84493501-84493577	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr12:84501515-84501558	HepG2	liver:	n/a	n/a
25	CTCF	chr12:84522089-84522142	GM20000	blood:	n/a	n/a
26	CTCF	chr12:84501420-84501570	HEK293	kidney:	n/a	n/a
27	CTCF	chr12:84501379-84501589	LNCaP	prostate:	n/a	n/a
28	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
29	CTCF	chr12:84525980-84526130	AG10803	skin:	n/a	n/a
30	CTCF	chr12:84509100-84509250	HMF	breast:	n/a	n/a
31	CTCF	chr12:84511920-84512070	A549	lung:	n/a	n/a
32	CTCF	chr12:84526060-84526210	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr12:84555220-84555370	AG09319	gingival:	n/a	n/a
34	CTCF	chr12:84501525-84501533	K562	blood:	n/a	n/a
35	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:84511860-84512010	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
38	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
39	CTCF	chr12:84501500-84501650	HMEC	breast:	n/a	n/a
40	CTCF	chr12:84509040-84509190	BE2_C	brain:	n/a	n/a
41	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
43	CTCF	chr12:84497808-84497930	Lung_OC	lung:	n/a	n/a
44	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
45	E2F4	chr12:84530131-84530653	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr12:84528734-84528934	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr12:84524840-84525144	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr12:84551976-84552117	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr12:84530887-84531192	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
2	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
3	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
4	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region

Extended variants
information (count: 1797 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1797 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1384319	chr12:84489579-84489580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183756611	chr12:84489628-84489629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552945930	chr12:84489642-84489643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187841094	chr12:84489664-84489665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536243903	chr12:84489701-84489702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191342451	chr12:84489814-84489815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74237283	chr12:84489864-84489865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183217891	chr12:84489912-84489913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186759593	chr12:84490000-84490001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577317161	chr12:84490051-84490052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541755567	chr12:84490079-84490080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376091893	chr12:84490114-84490115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144013834	chr12:84490134-84490135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191465436	chr12:84490135-84490136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529727672	chr12:84490156-84490157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370329627	chr12:84490252-84490253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575890715	chr12:84490277-84490278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148695084	chr12:84490314-84490315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7315164	chr12:84490325-84490326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7315168	chr12:84490343-84490344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552262809	chr12:84490349-84490350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570630481	chr12:84490357-84490358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528272924	chr12:84490393-84490394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546916057	chr12:84490401-84490402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572614911	chr12:84490430-84490431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568252677	chr12:84490476-84490477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11333642	chr12:84490486-84490487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142206142	chr12:84490510-84490511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554556184	chr12:84490526-84490527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184742363	chr12:84490551-84490552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370177738	chr12:84490573-84490574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537149421	chr12:84490605-84490606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558620683	chr12:84490670-84490671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373390056	chr12:84490695-84490696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376315302	chr12:84490726-84490727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540681251	chr12:84490729-84490730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150825578	chr12:84490733-84490734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7315679	chr12:84490755-84490756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368644122	chr12:84490782-84490783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7315694	chr12:84490803-84490804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61951839	chr12:84490874-84490875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369198899	chr12:84490878-84490879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115880609	chr12:84490942-84490943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564019550	chr12:84491025-84491026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528324873	chr12:84491038-84491039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77471123	chr12:84491113-84491114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561884794	chr12:84491121-84491122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529157698	chr12:84491129-84491130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550413131	chr12:84491130-84491131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569759066	chr12:84491133-84491134	ZNF genes & repeats Weak transcription	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
2	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
7	chr12:84510400-84510800	Enhancers	A549	lung
8	chr12:84510800-84511000	Active TSS	A549	lung
9	chr12:84511000-84511200	Flanking Active TSS	A549	lung
10	chr12:84511200-84511400	Active TSS	A549	lung
11	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:84522600-84523000	Active TSS	Spleen	Spleen
13	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
16	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
19	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:84528800-84529000	Enhancers	NHEK	skin
21	chr12:84529000-84529800	Weak transcription	NHEK	skin
22	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
26	chr12:84529800-84531400	Enhancers	NHEK	skin
27	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
28	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
29	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:84543800-84544600	Enhancers	NHEK	skin
36	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr12:84559600-84560400	Enhancers	A549	lung
44	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:84566800-84567200	Enhancers	HMEC	breast
49	chr12:84567000-84569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:84577000-84577200	Enhancers	Fetal Heart	heart

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