Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75018075..75020883-chr5:75022591..75024693,2	K562	blood:

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

rs_ID	r²[population]
rs10515213	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs12109251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168807	0.88[CEU][hapmap]
rs17563610	0.89[CEU][hapmap]
rs17563877	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs17563995	0.82[EUR][1000 genomes]
rs17649248	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs17649266	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs17649332	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs17649350	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs17649362	0.82[EUR][1000 genomes]
rs2291630	0.89[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2307112	0.94[CEU][hapmap]
rs3797581	0.88[CEU][hapmap]
rs58255973	0.83[EUR][1000 genomes]
rs72633987	0.82[EUR][1000 genomes]
rs72633988	0.82[EUR][1000 genomes]
rs72633989	0.83[EUR][1000 genomes]
rs72633990	0.83[EUR][1000 genomes]
rs7734618	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs888788	0.89[CEU][hapmap]

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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4704235	FLJ35779	cis	multi-tissue	Pritchard
rs4704235	POC5	cis	cerebellum	SCAN
rs4704235	HMGCR	cis	cerebellum	SCAN
rs4704235	TNPO1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75013400-75024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:75019200-75024400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:75022000-75024600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:75022200-75025000	Weak transcription	Brain Angular Gyrus	brain
5	chr5:75024200-75024800	Enhancers	Brain Substantia Nigra	brain
6	chr5:75024200-75025000	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:75024200-75025200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:75024200-75026200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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