Variant report

Variant	rs546913128
Chromosome Location	chr12:64216411-64216412
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	FOS	chr12:64216260-64216535	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:64216261-64216529	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr12:64216252-64216548	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:64216287-64216484	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:64216274-64216524	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:64216298-64216568	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TMEM5-AS1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976635	chr12:64215811-64218681	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64215200-64216600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:64215400-64216600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr12:64215400-64216600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:64215400-64216800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:64215400-64216800	Active TSS	Brain Substantia Nigra	brain
6	chr12:64215600-64216600	Active TSS	Duodenum Mucosa	Duodenum
7	chr12:64215600-64216600	Flanking Active TSS	HMEC	breast
8	chr12:64216000-64216600	Enhancers	HSMM	muscle
9	chr12:64216000-64216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:64216000-64217000	Weak transcription	Lung	lung
11	chr12:64216000-64217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:64216000-64217400	Weak transcription	Pancreas	Pancrea
13	chr12:64216000-64224200	Weak transcription	Aorta	Aorta
14	chr12:64216200-64216600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:64216200-64216600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:64216200-64216800	Enhancers	A549	lung
17	chr12:64216200-64216800	Flanking Active TSS	NHEK	skin
18	chr12:64216200-64217000	Enhancers	Liver	Liver
19	chr12:64216200-64217000	Enhancers	Placenta	Placenta
20	chr12:64216200-64217600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:64216200-64219600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:64216400-64216600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64216400-64216600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:64216400-64216600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:64216400-64216600	Active TSS	NH-A	brain
27	chr12:64216400-64216600	Active TSS	NHDF-Ad	bronchial
28	chr12:64216400-64216600	Flanking Active TSS	NHLF	lung
29	chr12:64216400-64216600	Active TSS	Osteobl	bone
30	chr12:64216400-64217400	Flanking Active TSS	HepG2	liver
31	chr12:64216400-64219200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:64216400-64219800	Weak transcription	Fetal Kidney	kidney
33	chr12:64216400-64220200	Weak transcription	Fetal Lung	lung

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