Variant report

Variant	rs685279
Chromosome Location	chr6:139824415-139824416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12205386	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2908511	0.94[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2908514	0.94[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2908515	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1026819	chr6:139813809-139834012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs685279	KIAA1244	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139822600-139829200	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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