Variant report

Variant	nsv559579
Chromosome Location	chr12:84564068-84593586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
2	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
3	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
4	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
5	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
10	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
11	CTCF	chr12:84566972-84567047	MCF-7	breast:	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	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
17	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
18	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr12:84579965-84580860	SK-N-SH	brain:	n/a	n/a
20	EP300	chr12:84579954-84580612	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
22	FOSL2	chr12:84580016-84580730	SK-N-SH	brain:	n/a	n/a
23	FOXM1	chr12:84580127-84580698	SK-N-SH	brain:	n/a	n/a
24	FOXM1	chr12:84580208-84580679	SK-N-SH	brain:	n/a	n/a
25	GATA2	chr12:84580236-84580509	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr12:84579976-84580774	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr12:84579876-84580843	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr12:84578622-84578773	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr12:84564153-84564313	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr12:84580387-84580493	SH-SY5Y	brain:	n/a	n/a
31	JUND	chr12:84579967-84580721	SK-N-SH	brain:	n/a	n/a
32	JUND	chr12:84580040-84580748	SK-N-SH	brain:	n/a	n/a
33	MAFK	chr12:84569018-84569102	HepG2	liver:	n/a	n/a
34	MAZ	chr12:84573352-84573400	HepG2	liver:	n/a	n/a
35	MYC	chr12:84566883-84566884	MCF-7	breast:	n/a	n/a
36	MYC	chr12:84566925-84567025	MCF-7	breast:	n/a	n/a
37	MYC	chr12:84571453-84571647	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr12:84587913-84587921	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr12:84566892-84567120	MCF-7	breast:	n/a	n/a
40	MYC	chr12:84568105-84568266	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr12:84568037-84568217	MCF-7	breast:	n/a	n/a
42	MYC	chr12:84566898-84567075	MCF-7	breast:	n/a	n/a
43	MYC	chr12:84567032-84567052	MCF-7	breast:	n/a	n/a
44	NFIC	chr12:84579908-84580870	SK-N-SH	brain:	n/a	n/a
45	NFIC	chr12:84580107-84580598	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr12:84580025-84580695	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr12:84579842-84580765	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr12:84567156-84567168	A549	lung:	n/a	n/a
49	POLR2A	chr12:84588901-84589141	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr12:84567993-84567997	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 534 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140200987	chr12:84566840-84566841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536277015	chr12:84566847-84566848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2929820	chr12:84566875-84566876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534746911	chr12:84566919-84566920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149894191	chr12:84566929-84566930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144945418	chr12:84566931-84566932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149092981	chr12:84566940-84566941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557613369	chr12:84566993-84566994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114465842	chr12:84567018-84567019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192764750	chr12:84567038-84567039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572677565	chr12:84567042-84567043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572978130	chr12:84567048-84567049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540295271	chr12:84567056-84567057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561898099	chr12:84567068-84567069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529061765	chr12:84567124-84567125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370351620	chr12:84567130-84567131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562789459	chr12:84567154-84567155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533036231	chr12:84567157-84567158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552153355	chr12:84567165-84567166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546467486	chr12:84567206-84567207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183619819	chr12:84567222-84567223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534809590	chr12:84567229-84567230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546676396	chr12:84567233-84567234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568591035	chr12:84567273-84567274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75011294	chr12:84567274-84567275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557411017	chr12:84567275-84567276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188318342	chr12:84567307-84567308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540092253	chr12:84567378-84567379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557801961	chr12:84567380-84567381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572860570	chr12:84567412-84567413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147854136	chr12:84567457-84567458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561762268	chr12:84567486-84567487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141407645	chr12:84567562-84567563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147036506	chr12:84567572-84567573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2403183	chr12:84567611-84567612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576911800	chr12:84567635-84567636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2403184	chr12:84567642-84567643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551229963	chr12:84567656-84567657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148075501	chr12:84567681-84567682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150232304	chr12:84567714-84567715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546738339	chr12:84567780-84567781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577867842	chr12:84567832-84567833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568533761	chr12:84567852-84567853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78196100	chr12:84567857-84567858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551157113	chr12:84567871-84567872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367869391	chr12:84567876-84567877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142183248	chr12:84567882-84567883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181757207	chr12:84567896-84567897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2086622	chr12:84567897-84567898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560277516	chr12:84567948-84567949	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:15 , 50 per page) page: 1

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

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