Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38824139..38825694-chr6:38825696..38828144,2	K562	blood:

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

rs_ID	r²[population]
rs1018420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs12191936	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196388	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12199272	1.00[ASN][1000 genomes]
rs12208880	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12209872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12210346	1.00[ASN][1000 genomes]
rs13196250	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208143	1.00[CHB][hapmap]
rs13213448	1.00[CHB][hapmap]
rs13219077	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1625177	1.00[CHB][hapmap]
rs1631117	1.00[CHD][hapmap]
rs1781723	1.00[CHB][hapmap]
rs1937777	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2395710	1.00[CHB][hapmap]
rs506672	1.00[CHB][hapmap]
rs67438253	1.00[ASN][1000 genomes]
rs6923304	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6928323	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6930268	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7742625	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs926674	1.00[CHB][hapmap]
rs9296260	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9470961	1.00[CHB][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	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1033524	ANKS1A	cis	parietal	SCAN
rs1033524	KIAA0240	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38824200-38829800	Enhancers	Liver	Liver

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