Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152872646..152875628-chr4:152877195..152879538,2	K562	blood:

Variant related genes	Relation type
ENSG00000251249	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13129634	0.82[ASN][1000 genomes]
rs1364870	0.82[ASN][1000 genomes]
rs1425398	0.82[ASN][1000 genomes]
rs173405	0.82[ASN][1000 genomes]
rs2020009	0.81[MEX][hapmap]
rs28429024	0.82[ASN][1000 genomes]
rs360904	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360905	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs360911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs360925	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs360934	0.82[ASN][1000 genomes]
rs360937	0.81[EUR][1000 genomes]
rs360943	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360944	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360946	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360952	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361146	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566370	0.82[ASN][1000 genomes]
rs578738	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844372	0.82[ASN][1000 genomes]
rs6845076	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs879169	0.82[ASN][1000 genomes]
rs9991939	0.82[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1030328	chr4:152791533-152875666	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1028836	chr4:152791680-152879097	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs360951	FGG	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152873000-152877600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:152873000-152878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:152873600-152878200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:152873600-152878200	Weak transcription	Fetal Brain Male	brain
5	chr4:152874000-152875800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:152874600-152875800	Enhancers	Fetal Heart	heart
7	chr4:152874800-152877200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:152874800-152877200	Weak transcription	NHDF-Ad	bronchial
9	chr4:152875000-152877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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