Variant report

Variant	rs539180411
Chromosome Location	chr12:46008823-46008824
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	GATA3	chr12:46008746-46009710	MCF-7	breast:	n/a	chr12:46009541-46009552 chr12:46008935-46008945 chr12:46009340-46009349
3	GATA3	chr12:46008796-46009466	A549	lung:	n/a	chr12:46008935-46008945 chr12:46009340-46009349
4	GATA3	chr12:46008815-46009611	MCF-7	breast:	n/a	chr12:46009541-46009552 chr12:46008935-46008945 chr12:46009340-46009349

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46000607..46002372-chr12:46007311..46008913,2	MCF-7	breast:
2	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46005400-46009000	Weak transcription	NH-A	brain
2	chr12:46005400-46009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:46005400-46009400	Weak transcription	NHEK	skin
4	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
5	chr12:46005600-46009200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:46006200-46009000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:46006200-46009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:46006200-46009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:46006400-46009000	Weak transcription	Osteobl	bone
10	chr12:46006400-46009200	Weak transcription	NHDF-Ad	bronchial
11	chr12:46007000-46009000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:46007200-46009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:46007600-46009200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:46007600-46009200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:46007600-46009600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:46007600-46010600	Enhancers	Hela-S3	cervix
17	chr12:46008000-46009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:46008200-46009600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:46008200-46009800	Enhancers	Brain Anterior Caudate	brain
20	chr12:46008400-46009000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:46008600-46010000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:46008600-46010000	Enhancers	HUVEC	blood vessel
23	chr12:46008800-46009800	Enhancers	A549	lung
24	chr12:46008800-46010200	Enhancers	NHLF	lung

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