Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1079230	0.85[ASN][1000 genomes]
rs1107027	0.89[ASN][1000 genomes]
rs1126328	0.83[MEX][hapmap]
rs1477875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477876	0.91[ASN][1000 genomes]
rs1546526	0.89[ASN][1000 genomes]
rs1972815	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs1996005	0.89[ASN][1000 genomes]
rs2164266	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572283	0.91[ASN][1000 genomes]
rs2572299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590780	0.85[ASN][1000 genomes]
rs2590781	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2590816	0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs2616386	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2616417	0.83[MKK][hapmap];0.84[YRI][hapmap]
rs2668516	0.91[ASN][1000 genomes]
rs2668521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668524	0.89[ASN][1000 genomes]
rs2668529	0.89[ASN][1000 genomes]
rs2668549	0.89[ASN][1000 genomes]
rs2668566	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7686480	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1004253	chr4:54471388-54494983	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1010881	chr4:54471545-54494983	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv10493	chr4:54490157-54499600	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2572291	KDR	cis	parietal	SCAN
rs2572291	TXNDC9	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54485200-54505800	Weak transcription	Esophagus	oesophagus
2	chr4:54489600-54495800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54490800-54498400	Weak transcription	Left Ventricle	heart
4	chr4:54491000-54499200	Weak transcription	Ovary	ovary
5	chr4:54492600-54494200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:54492600-54495000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:54492600-54495200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:54492800-54495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:54493000-54493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:54493200-54493400	Enhancers	Lung	lung
11	chr4:54493200-54494000	Enhancers	HUES6 Cell Line	embryonic stem cell

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