Variant report

Variant	esv1844662
Chromosome Location	chr12:84555542-84595585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
3	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
4	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
6	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
7	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
8	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
12	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
14	E2F4	chr12:84571702-84571850	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr12:84560524-84560995	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr12:84561788-84562273	SK-N-SH	brain:	n/a	chr12:84562212-84562226
20	EP300	chr12:84560722-84560953	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr12:84579965-84580860	SK-N-SH	brain:	n/a	n/a
22	EP300	chr12:84560383-84561002	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr12:84579954-84580612	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
25	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
26	ESR1	chr12:84560606-84561003	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr12:84560511-84561029	ECC-1	luminal epithelium:	n/a	n/a
28	ESR1	chr12:84560531-84560856	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr12:84560563-84560984	ECC-1	luminal epithelium:	n/a	n/a
30	ESR1	chr12:84560533-84560939	ECC-1	luminal epithelium:	n/a	n/a
31	FOSL2	chr12:84580016-84580730	SK-N-SH	brain:	n/a	n/a
32	FOXA1	chr12:84559866-84560155	T-47D	breast:	n/a	chr12:84559969-84559984
33	FOXA1	chr12:84560617-84560967	ECC-1	luminal epithelium:	n/a	n/a
34	FOXA2	chr12:84559800-84560093	A549	lung:	n/a	n/a
35	FOXA2	chr12:84559672-84560408	A549	lung:	n/a	n/a
36	FOXM1	chr12:84580127-84580698	SK-N-SH	brain:	n/a	n/a
37	FOXM1	chr12:84580208-84580679	SK-N-SH	brain:	n/a	n/a
38	GATA2	chr12:84580236-84580509	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr12:84564153-84564313	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr12:84580387-84580493	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr12:84561822-84562319	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr12:84579976-84580774	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr12:84579876-84580843	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr12:84561863-84562396	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr12:84578622-84578773	SH-SY5Y	brain:	n/a	n/a
46	JUND	chr12:84579967-84580721	SK-N-SH	brain:	n/a	n/a
47	JUND	chr12:84580040-84580748	SK-N-SH	brain:	n/a	n/a
48	MAFK	chr12:84569018-84569102	HepG2	liver:	n/a	n/a
49	MAZ	chr12:84558153-84558197	HepG2	liver:	n/a	n/a
50	MAZ	chr12:84573352-84573400	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
2	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
3	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: 645 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200250364	chr12:84559634-84559635	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548099941	chr12:84559636-84559637	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181587039	chr12:84559643-84559644	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185910197	chr12:84559682-84559683	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547794611	chr12:84559683-84559684	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189482810	chr12:84559685-84559686	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181919226	chr12:84559690-84559691	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373230643	chr12:84559714-84559715	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558331063	chr12:84559725-84559726	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570658996	chr12:84559741-84559742	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375796906	chr12:84559766-84559767	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377249583	chr12:84559775-84559776	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138096770	chr12:84559783-84559784	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149529235	chr12:84559809-84559810	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140741284	chr12:84559834-84559835	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201454166	chr12:84559836-84559837	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199689661	chr12:84559841-84559842	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542105400	chr12:84559843-84559844	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35924319	chr12:84559882-84559883	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555005661	chr12:84559893-84559894	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10779079	chr12:84559905-84559906	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187571013	chr12:84559927-84559928	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552063537	chr12:84559954-84559955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565214791	chr12:84559976-84559977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577414292	chr12:84560068-84560069	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112210582	chr12:84560073-84560074	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571465556	chr12:84560097-84560098	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147246327	chr12:84560122-84560123	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559482086	chr12:84560149-84560150	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530333222	chr12:84560158-84560159	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548447631	chr12:84560175-84560176	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10779080	chr12:84560247-84560248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530407203	chr12:84560257-84560258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532603490	chr12:84560266-84560267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537086408	chr12:84560288-84560289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570449098	chr12:84560319-84560320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190376061	chr12:84560338-84560339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550287496	chr12:84560345-84560346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568214521	chr12:84560351-84560352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150120729	chr12:84560353-84560354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34012101	chr12:84560393-84560394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139079887	chr12:84560408-84560409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557277636	chr12:84560455-84560456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576535517	chr12:84560467-84560468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537048202	chr12:84560522-84560523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559051106	chr12:84560534-84560535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71437092	chr12:84560569-84560570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75298202	chr12:84560586-84560587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559545638	chr12:84560614-84560615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574654436	chr12:84560634-84560635	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
2	chr12:84559600-84560400	Enhancers	A549	lung
3	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:84566800-84567200	Enhancers	HMEC	breast
8	chr12:84567000-84569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:84577000-84577200	Enhancers	Fetal Heart	heart
10	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:84577000-84578000	Enhancers	NHEK	skin
13	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
15	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
16	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:84585200-84586400	Enhancers	HMEC	breast
18	chr12:84585600-84586400	Enhancers	NHEK	skin
19	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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