Variant report

Variant	rs538457954
Chromosome Location	chr12:57153240-57153241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr12:57152926-57153505	HepG2	liver:	n/a	n/a
2	HDAC2	chr12:57152984-57153498	HepG2	liver:	n/a	n/a
3	FOXA2	chr12:57152929-57153759	HepG2	liver:	n/a	chr12:57153257-57153269
4	FOS	chr12:57153042-57153246	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr12:57152816-57153749	HepG2	liver:	n/a	n/a
6	TEAD4	chr12:57152652-57153735	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:57152795-57153808	HepG2	liver:	n/a	chr12:57153257-57153269
8	CEBPB	chr12:57153003-57153357	HepG2	liver:	n/a	n/a
9	MAX	chr12:57153174-57153577	HepG2	liver:	n/a	chr12:57153420-57153430
10	EP300	chr12:57152977-57153697	HepG2	liver:	n/a	n/a
11	MAZ	chr12:57153099-57153336	HepG2	liver:	n/a	n/a
12	USF1	chr12:57153204-57153580	A549	lung:	n/a	chr12:57153421-57153430 chr12:57153420-57153431 chr12:57153421-57153430
13	FOXA1	chr12:57152953-57153546	A549	lung:	n/a	chr12:57153257-57153269
14	NR2F2	chr12:57152553-57153810	HepG2	liver:	n/a	n/a
15	MYBL2	chr12:57152536-57153627	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:57152864-57153634	HepG2	liver:	n/a	chr12:57153257-57153269
17	CEBPB	chr12:57153022-57153253	HepG2	liver:	n/a	n/a
18	RXRA	chr12:57152962-57153536	HepG2	liver:	n/a	n/a
19	ARID3A	chr12:57152616-57153820	HepG2	liver:	n/a	n/a
20	NFIC	chr12:57152534-57153705	HepG2	liver:	n/a	n/a
21	EP300	chr12:57153030-57153693	HepG2	liver:	n/a	n/a
22	MBD4	chr12:57152845-57153459	HepG2	liver:	n/a	n/a
23	FOXA1	chr12:57152888-57153791	HepG2	liver:	n/a	chr12:57153257-57153269
24	TCF7L2	chr12:57152860-57153560	HepG2	liver:	n/a	n/a
25	FOXA2	chr12:57152552-57153914	HepG2	liver:	n/a	chr12:57153257-57153269
26	MAFF	chr12:57152752-57153453	HepG2	liver:	n/a	n/a
27	NFIC	chr12:57152909-57153794	HepG2	liver:	n/a	n/a
28	JUND	chr12:57152791-57153635	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:57153147-57153644	HepG2	liver:	n/a	chr12:57153421-57153430 chr12:57153421-57153430
30	JUN	chr12:57152865-57153536	HepG2	liver:	n/a	n/a
31	HNF4A	chr12:57153084-57153417	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:57152818-57153496	HepG2	liver:	n/a	n/a
33	RCOR1	chr12:57153079-57153400	HepG2	liver:	n/a	n/a
34	NR2F2	chr12:57152783-57153540	HepG2	liver:	n/a	n/a
35	HNF4G	chr12:57152726-57153468	HepG2	liver:	n/a	n/a
36	TBP	chr12:57153088-57153585	HepG2	liver:	n/a	n/a
37	FOXA1	chr12:57152910-57153655	HepG2	liver:	n/a	chr12:57153257-57153269
38	EP300	chr12:57152769-57153666	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:57153015-57153310	IMR90	lung:	n/a	n/a
40	FOS	chr12:57153107-57153245	MCF10A-Er-Src	breast:	n/a	n/a
41	CEBPB	chr12:57152971-57153485	HepG2	liver:	n/a	n/a
42	HNF4G	chr12:57152881-57153457	HepG2	liver:	n/a	n/a
43	HDAC2	chr12:57152799-57153476	HepG2	liver:	n/a	n/a
44	HNF4A	chr12:57152999-57153477	HepG2	liver:	n/a	n/a
45	MYBL2	chr12:57152877-57153657	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57151760..57156015-chr12:57398737..57401426,4	MCF-7	breast:
2	chr12:57151540..57154477-chr12:57162511..57165120,2	K562	blood:

Variant related genes	Relation type
HSD17B6	TF binding region
ENSG00000166860	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57146400-57160400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57152200-57161800	Weak transcription	Pancreas	Pancrea
3	chr12:57153000-57153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:57153000-57153800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:57153000-57153800	Enhancers	Liver	Liver
6	chr12:57153000-57153800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:57153200-57153400	Enhancers	HepG2	liver
8	chr12:57153200-57153600	Enhancers	Fetal Intestine Large	intestine

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