Variant report

Variant	rs540506203
Chromosome Location	chr12:46009009-46009010
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	TCF12	chr12:46008737-46009614	A549	lung:	n/a	chr12:46008742-46008751
2	REST	chr12:46008889-46009414	A549	lung:	n/a	n/a
3	FOXA2	chr12:46008952-46009477	A549	lung:	n/a	n/a
4	CEBPB	chr12:46008921-46009457	MCF-7	breast:	n/a	chr12:46009043-46009056
5	HDAC2	chr12:46008959-46009570	MCF-7	breast:	n/a	chr12:46009528-46009542
6	TCF12	chr12:46008946-46009645	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:46008976-46009477	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr12:46008746-46009710	MCF-7	breast:	n/a	chr12:46009541-46009552 chr12:46008935-46008945 chr12:46009340-46009349
9	GATA3	chr12:46008796-46009466	A549	lung:	n/a	chr12:46008935-46008945 chr12:46009340-46009349
10	EP300	chr12:46008983-46009502	SK-N-SH	brain:	n/a	chr12:46009237-46009247
11	FOXM1	chr12:46009006-46009476	MCF-7	breast:	n/a	n/a
12	TCF12	chr12:46008910-46009561	SK-N-SH	brain:	n/a	n/a
13	EP300	chr12:46008914-46009557	MCF-7	breast:	n/a	chr12:46009237-46009247
14	GATA3	chr12:46008815-46009611	MCF-7	breast:	n/a	chr12:46009541-46009552 chr12:46008935-46008945 chr12:46009340-46009349
15	SP1	chr12:46009009-46009498	A549	lung:	n/a	chr12:46009314-46009328
16	CEBPB	chr12:46009001-46009362	Hela-S3	cervix:	n/a	chr12:46009043-46009056
17	SP1	chr12:46008915-46009492	A549	lung:	n/a	chr12:46009314-46009328
18	KAP1	chr12:46008973-46009767	U2OS	brain:	n/a	n/a
19	GATA3	chr12:46008948-46009548	SK-N-SH	brain:	n/a	chr12:46009340-46009349
20	FOXM1	chr12:46008904-46009537	MCF-7	breast:	n/a	n/a
21	FOS	chr12:46008935-46009542	HUVEC	blood vessel:	n/a	chr12:46009337-46009349 chr12:46009337-46009348 chr12:46009339-46009347
22	EP300	chr12:46008867-46009547	A549	lung:	n/a	chr12:46009237-46009247
23	NR2F2	chr12:46008954-46009493	MCF-7	breast:	n/a	n/a
24	PBX3	chr12:46008933-46009572	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45989699..45991915-chr12:46007034..46009721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257657	TF binding region

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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv983462	chr12:46008670-46015543	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46005400-46009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:46005400-46009400	Weak transcription	NHEK	skin
3	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
4	chr12:46005600-46009200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:46006400-46009200	Weak transcription	NHDF-Ad	bronchial
6	chr12:46007200-46009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:46007600-46009200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:46007600-46009200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:46007600-46009600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:46007600-46010600	Enhancers	Hela-S3	cervix
11	chr12:46008200-46009600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:46008200-46009800	Enhancers	Brain Anterior Caudate	brain
13	chr12:46008600-46010000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:46008600-46010000	Enhancers	HUVEC	blood vessel
15	chr12:46008800-46009800	Enhancers	A549	lung
16	chr12:46008800-46010200	Enhancers	NHLF	lung
17	chr12:46009000-46009600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:46009000-46009800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:46009000-46009800	Enhancers	Brain Hippocampus Middle	brain
20	chr12:46009000-46009800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:46009000-46009800	Enhancers	HSMM	muscle
22	chr12:46009000-46009800	Enhancers	NH-A	brain
23	chr12:46009000-46009800	Enhancers	Osteobl	bone
24	chr12:46009000-46010000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:46009000-46010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:46009000-46010000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:46009000-46010000	Enhancers	Fetal Kidney	kidney
28	chr12:46009000-46010000	Enhancers	HSMMtube	muscle

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