Variant report

Variant	rs58706987
Chromosome Location	chr12:106452222-106452223
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	MAX	chr12:106451995-106452451	SK-N-SH	brain:	n/a	chr12:106452089-106452096
2	PBX3	chr12:106452127-106453085	SK-N-SH	brain:	n/a	n/a
3	FOS	chr12:106452151-106452436	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr12:106452106-106452443	IMR90	lung:	n/a	chr12:106452292-106452301
5	FOS	chr12:106452204-106452419	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr12:106451846-106453207	SK-N-SH	brain:	n/a	chr12:106452576-106452584
7	TCF12	chr12:106451906-106453196	SK-N-SH	brain:	n/a	chr12:106452576-106452584
8	ZNF263	chr12:106451780-106452244	HEK293-T-REx	kidney:	n/a	n/a
9	PBX3	chr12:106452050-106452446	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr12:106452037-106453090	SK-N-SH	brain:	n/a	chr12:106452777-106452787
11	MXI1	chr12:106452078-106452890	IMR90	lung:	n/a	n/a
12	CTCF	chr12:106452120-106452270	AG10803	skin:	n/a	n/a
13	POLR2A	chr12:106452077-106452410	SK-N-SH	brain:	n/a	n/a
14	EP300	chr12:106452070-106453126	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000257890	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1427794	0.97[AFR][1000 genomes]
rs17041572	0.97[EUR][1000 genomes]
rs57752342	0.97[EUR][1000 genomes]
rs60117100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73397105	0.96[AFR][1000 genomes]
rs753924	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106444000-106453600	Weak transcription	Fetal Brain Male	brain
3	chr12:106444000-106457800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:106446600-106456400	Weak transcription	Right Atrium	heart
5	chr12:106446600-106459400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:106451800-106452400	Enhancers	Adipose Nuclei	Adipose
7	chr12:106451800-106452600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:106451800-106452600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:106451800-106452800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:106451800-106452800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:106451800-106452800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:106451800-106452800	Enhancers	HMEC	breast
13	chr12:106451800-106452800	Enhancers	NHDF-Ad	bronchial
14	chr12:106451800-106452800	Enhancers	NHEK	skin
15	chr12:106451800-106452800	Enhancers	Osteobl	bone
16	chr12:106451800-106453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:106451800-106453000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:106451800-106453000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:106451800-106453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:106451800-106453000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:106451800-106453600	Enhancers	HSMM	muscle
22	chr12:106452000-106452400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:106452000-106452400	Enhancers	Psoas Muscle	Psoas
24	chr12:106452000-106452600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:106452000-106452800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:106452000-106452800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106452000-106452800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:106452000-106452800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:106452000-106452800	Enhancers	Fetal Muscle Leg	muscle
30	chr12:106452000-106452800	Enhancers	Left Ventricle	heart
31	chr12:106452000-106452800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:106452000-106452800	Enhancers	NH-A	brain
33	chr12:106452000-106453200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:106452200-106452400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:106452200-106452400	Enhancers	HSMMtube	muscle
36	chr12:106452200-106452800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:106452200-106456400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:106452200-106459400	Weak transcription	Fetal Lung	lung
39	chr12:106452200-106460000	Weak transcription	Placenta	Placenta
40	chr12:106452200-106460600	Weak transcription	NHLF	lung

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