Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106753473..106755811-chr8:106757998..106761586,3	K562	blood:
2	chr8:106750489..106753097-chr8:106755360..106757622,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10106386	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.96[ASN][1000 genomes]
rs11776679	0.89[ASN][1000 genomes]
rs12541049	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542643	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12545480	0.99[ASN][1000 genomes]
rs12546300	0.96[ASN][1000 genomes]
rs12547056	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550547	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1578995	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs16873601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1992471	0.93[ASN][1000 genomes]
rs2028552	0.81[ASN][1000 genomes]
rs28565020	0.91[ASN][1000 genomes]
rs4302813	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57566398	0.91[ASN][1000 genomes]
rs58307372	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992301	0.91[ASN][1000 genomes]
rs73305073	0.91[ASN][1000 genomes]
rs7816793	0.91[ASN][1000 genomes]
rs7823563	0.87[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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv891260	chr8:106737459-106808078	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1442326	ABRA	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106742800-106760000	Weak transcription	Left Ventricle	heart
2	chr8:106743600-106768400	Weak transcription	Psoas Muscle	Psoas
3	chr8:106743800-106756000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:106744400-106755800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:106750000-106768200	Weak transcription	K562	blood
6	chr8:106750200-106760000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:106750600-106758400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:106752200-106757600	Weak transcription	Fetal Brain Female	brain
9	chr8:106753400-106759600	Weak transcription	Fetal Lung	lung
10	chr8:106753800-106772000	Weak transcription	Aorta	Aorta
11	chr8:106755400-106757200	Enhancers	Ovary	ovary
12	chr8:106755600-106756000	Enhancers	Right Ventricle	heart

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