Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:151285250-151285538	H1-hESC	embryonic stem cell:	n/a	chr3:151285390-151285405
2	MAFK	chr3:151285246-151285488	HepG2	liver:	n/a	chr3:151285390-151285405

Variant related genes	Relation type
MIR5186	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10935863	0.90[EUR][1000 genomes]
rs4234331	0.87[EUR][1000 genomes]
rs4234332	0.87[EUR][1000 genomes]
rs4396876	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs4425232	0.80[ASN][1000 genomes]
rs4679859	0.85[EUR][1000 genomes]
rs6440769	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6440770	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs6774714	0.90[EUR][1000 genomes]
rs6776733	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6779609	0.80[ASN][1000 genomes]
rs6804240	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7611359	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7623338	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7629779	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs7638168	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7644126	0.80[ASN][1000 genomes]
rs9815407	0.89[EUR][1000 genomes]
rs9831576	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs9842254	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9842591	0.90[EUR][1000 genomes]
rs9866939	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][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	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7635131	HLTF	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151277200-151286000	Weak transcription	Adipose Nuclei	Adipose
2	chr3:151280000-151285600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:151280800-151285400	Weak transcription	Fetal Stomach	stomach
4	chr3:151282200-151285600	Weak transcription	Fetal Lung	lung
5	chr3:151282400-151287800	Weak transcription	Dnd41	blood
6	chr3:151284400-151286200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:151284600-151286400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:151284800-151285600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:151284800-151285800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:151284800-151285800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:151284800-151286400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:151284800-151286800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:151284800-151287000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:151285000-151285800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:151285000-151285800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:151285200-151286000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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