Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152907261..152909132-chr4:152911370..152913593,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11732516	1.00[JPT][hapmap]
rs13129634	0.81[ASN][1000 genomes]
rs1364870	0.81[ASN][1000 genomes]
rs1425398	0.81[ASN][1000 genomes]
rs173405	0.81[ASN][1000 genomes]
rs17361440	1.00[JPT][hapmap]
rs28429024	0.81[ASN][1000 genomes]
rs360909	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs360911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs360913	0.80[EUR][1000 genomes]
rs360916	0.80[EUR][1000 genomes]
rs360925	0.87[ASN][1000 genomes]
rs360934	0.81[ASN][1000 genomes]
rs360935	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs360951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs361146	0.87[ASN][1000 genomes]
rs566370	0.81[ASN][1000 genomes]
rs6844372	0.81[ASN][1000 genomes]
rs6845076	0.87[ASN][1000 genomes]
rs879169	0.81[ASN][1000 genomes]
rs9991939	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs360928	FBXW7	cis	parietal	SCAN
rs360928	FGG	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152899400-152910600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:152904600-152910000	Weak transcription	Fetal Brain Male	brain
3	chr4:152904800-152913400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:152905200-152910200	Weak transcription	Hela-S3	cervix
5	chr4:152906000-152912600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:152906000-152913600	Weak transcription	Brain Hippocampus Middle	brain

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