Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86782319..86784371-chr1:86788176..86791110,3	K562	blood:

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

rs_ID	r²[population]
rs10873777	0.83[CEU][hapmap];0.82[MEX][hapmap]
rs10873782	0.91[CHB][hapmap]
rs1182102	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[MEX][hapmap];0.80[ASN][1000 genomes]
rs1323033	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334145	0.91[CHB][hapmap]
rs1575413	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs175363	0.83[CEU][hapmap]
rs2181419	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs272492	0.82[CEU][hapmap]
rs272498	0.80[CEU][hapmap]
rs272504	0.83[CEU][hapmap];0.82[MEX][hapmap]
rs272507	0.83[CEU][hapmap]
rs272516	0.83[CEU][hapmap]
rs410807	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs450927	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs452865	0.90[EUR][1000 genomes]
rs567133	0.89[EUR][1000 genomes]
rs569912	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7525626	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7527383	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs768610	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs990771	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs997641	SEP15	cis	parietal	SCAN
rs997641	ODF2L	cis	multi-tissue	Pritchard

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86770600-86789800	Weak transcription	Fetal Lung	lung
2	chr1:86788000-86789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86788400-86791200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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