Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179723816..179726381-chr1:179730633..179732680,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1048418	1.00[CHB][hapmap]
rs10494523	1.00[CHB][hapmap]
rs10913893	1.00[CHB][hapmap]
rs10913905	1.00[CHB][hapmap]
rs10913909	1.00[CHB][hapmap]
rs11577513	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119431	1.00[CHB][hapmap]
rs12136091	1.00[CHB][hapmap]
rs12136465	1.00[CHB][hapmap]
rs12142457	1.00[CHB][hapmap]
rs12143942	1.00[CHB][hapmap]
rs12723969	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs12756362	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16854910	1.00[CHB][hapmap]
rs17370139	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000081	0.87[EUR][1000 genomes]
rs34233788	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34831485	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35698624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845388	1.00[CHB][hapmap]
rs4301600	1.00[CHB][hapmap]
rs7518566	1.00[CHB][hapmap]
rs7531195	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11590974	FAM163A	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179727800-179731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179729600-179731800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:179729800-179731800	Enhancers	Fetal Muscle Leg	muscle
4	chr1:179730200-179731400	Enhancers	Fetal Kidney	kidney
5	chr1:179730600-179731800	Enhancers	Brain Germinal Matrix	brain
6	chr1:179730600-179732000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:179731000-179731400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:179731000-179731400	Enhancers	Brain Cingulate Gyrus	brain

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