Variant report

Variant	esv3449328
Chromosome Location	chr12:84577533-84617463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
2	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
3	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
4	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
8	EP300	chr12:84579954-84580612	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
10	EP300	chr12:84579965-84580860	SK-N-SH	brain:	n/a	n/a
11	ESR1	chr12:84595787-84596035	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr12:84595767-84596126	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL2	chr12:84580016-84580730	SK-N-SH	brain:	n/a	n/a
14	FOXM1	chr12:84580208-84580679	SK-N-SH	brain:	n/a	n/a
15	FOXM1	chr12:84580127-84580698	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr12:84580236-84580509	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr12:84579976-84580774	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr12:84579876-84580843	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr12:84578622-84578773	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr12:84611278-84611590	T-47D	breast:	n/a	n/a
21	GATA3	chr12:84580387-84580493	SH-SY5Y	brain:	n/a	n/a
22	JUND	chr12:84580040-84580748	SK-N-SH	brain:	n/a	n/a
23	JUND	chr12:84579967-84580721	SK-N-SH	brain:	n/a	n/a
24	MAFF	chr12:84612850-84613001	HepG2	liver:	n/a	n/a
25	MAFK	chr12:84612864-84613038	HepG2	liver:	n/a	n/a
26	MAFK	chr12:84612801-84612954	HepG2	liver:	n/a	n/a
27	MAFK	chr12:84600298-84600486	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr12:84610979-84611192	A549	lung:	n/a	n/a
29	MYC	chr12:84612229-84612448	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr12:84587913-84587921	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr12:84612253-84612548	MCF10A-Er-Src	breast:	n/a	n/a
32	NFIC	chr12:84579908-84580870	SK-N-SH	brain:	n/a	n/a
33	NFIC	chr12:84580107-84580598	SK-N-SH	brain:	n/a	n/a
34	PBX3	chr12:84579842-84580765	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr12:84580025-84580695	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr12:84584778-84584877	ProgFib	skin:	n/a	n/a
37	POLR2A	chr12:84610506-84610535	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:84588901-84589141	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:84607423-84607523	ProgFib	skin:	n/a	n/a
40	POLR2A	chr12:84603879-84603959	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:84581064-84581264	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:84586439-84586444	Gliobla	brain:	n/a	n/a
43	POLR2A	chr12:84616518-84616687	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:84603829-84603933	A549	lung:	n/a	n/a
45	POLR2A	chr12:84580218-84580532	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr12:84616208-84616256	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:84601895-84602094	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:84608646-84608836	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:84611079-84611178	ProgFib	skin:	n/a	n/a
50	POLR2A	chr12:84595036-84595132	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 471 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571653762	chr12:84577537-84577538	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142694563	chr12:84577565-84577566	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554237612	chr12:84577586-84577587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572592799	chr12:84577598-84577599	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536865772	chr12:84577638-84577639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183041951	chr12:84577679-84577680	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576351884	chr12:84577712-84577713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147386595	chr12:84577713-84577714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187678361	chr12:84577748-84577749	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192395137	chr12:84577791-84577792	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561170139	chr12:84577797-84577798	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183909271	chr12:84577817-84577818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1482439	chr12:84577829-84577830	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs529707901	chr12:84577860-84577861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139545164	chr12:84577874-84577875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372832099	chr12:84577886-84577887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112478047	chr12:84577894-84577895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34754631	chr12:84577896-84577897	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530859152	chr12:84577908-84577909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552479881	chr12:84577973-84577974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563723246	chr12:84578009-84578010	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571599415	chr12:84578061-84578062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560651714	chr12:84578062-84578063	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549906042	chr12:84578075-84578076	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144011610	chr12:84578088-84578089	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1482438	chr12:84578089-84578090	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4441093	chr12:84578130-84578131	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536323169	chr12:84578131-84578132	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs12301261	chr12:84578162-84578163	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558875487	chr12:84578163-84578164	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576215893	chr12:84578181-84578182	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7314041	chr12:84578203-84578204	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187824072	chr12:84578208-84578209	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1482437	chr12:84578211-84578212	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377282761	chr12:84578244-84578245	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148691779	chr12:84578330-84578331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541021393	chr12:84578358-84578359	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559058825	chr12:84578370-84578371	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142198367	chr12:84578387-84578388	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541929869	chr12:84578388-84578389	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528757578	chr12:84578407-84578408	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563503875	chr12:84578423-84578424	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112197975	chr12:84578439-84578440	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530723934	chr12:84578466-84578467	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs34189312	chr12:84578467-84578468	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564416242	chr12:84578482-84578483	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528330167	chr12:84578499-84578500	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565529709	chr12:84578521-84578522	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs34736649	chr12:84578543-84578544	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62720960	chr12:84578544-84578545	Weak transcription Active TSS	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:84577000-84578000	Enhancers	NHEK	skin
4	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
6	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
7	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:84585200-84586400	Enhancers	HMEC	breast
9	chr12:84585600-84586400	Enhancers	NHEK	skin
10	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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