Variant report

Variant	rs74081344
Chromosome Location	chr12:46006989-46006990
allele	C/G
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	MAFF	chr12:46006845-46007024	HepG2	liver:	n/a	chr12:46006928-46006946
2	MAFK	chr12:46006836-46007075	HepG2	liver:	n/a	chr12:46006929-46006943 chr12:46006930-46006941 chr12:46006930-46006941 chr12:46006930-46006946
3	MAFK	chr12:46006857-46007018	HepG2	liver:	n/a	chr12:46006929-46006943 chr12:46006930-46006941 chr12:46006930-46006941 chr12:46006930-46006946
4	MAFK	chr12:46006904-46007104	IMR90	lung:	n/a	chr12:46006929-46006943 chr12:46006930-46006941 chr12:46006930-46006941 chr12:46006930-46006946

Variant related genes	Relation type
ENSG00000257657	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11183089	1.00[AMR][1000 genomes]
rs11183121	1.00[AMR][1000 genomes]
rs12302919	1.00[AMR][1000 genomes]
rs12305710	1.00[AMR][1000 genomes]
rs12309449	1.00[AMR][1000 genomes]
rs12315482	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321765	1.00[AMR][1000 genomes]
rs57162521	1.00[AMR][1000 genomes]
rs59594539	1.00[AMR][1000 genomes]
rs74081330	1.00[AMR][1000 genomes]
rs74081337	1.00[AMR][1000 genomes]
rs74081888	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46004800-46007600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:46005400-46007000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:46005400-46007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46005400-46007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:46005400-46007400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:46005400-46007600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:46005400-46007800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:46005400-46009000	Weak transcription	NH-A	brain
9	chr12:46005400-46009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:46005400-46009400	Weak transcription	NHEK	skin
11	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
12	chr12:46005600-46008200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:46005600-46009200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:46006000-46007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:46006200-46007400	Weak transcription	NHLF	lung
16	chr12:46006200-46009000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:46006200-46009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:46006200-46009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:46006400-46007600	Weak transcription	Hela-S3	cervix
20	chr12:46006400-46007600	Enhancers	HUVEC	blood vessel
21	chr12:46006400-46009000	Weak transcription	Osteobl	bone
22	chr12:46006400-46009200	Weak transcription	NHDF-Ad	bronchial
23	chr12:46006800-46007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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