Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47903024..47904874-chr1:47914470..47916409,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11577621	0.80[JPT][hapmap]
rs11578776	0.86[JPT][hapmap]
rs11590933	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12239450	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12727576	0.81[ASN][1000 genomes]
rs17103227	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17103260	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405915	0.81[ASN][1000 genomes]
rs2405916	0.81[ASN][1000 genomes]
rs3738316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806846	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55834028	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56011601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235005	0.95[ASN][1000 genomes]
rs59586402	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61412699	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6691595	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6695969	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6702055	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs72686267	0.87[ASN][1000 genomes]
rs72686279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686288	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525184	0.93[JPT][hapmap]

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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47913000-47915600	Weak transcription	Pancreas	Pancrea
3	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
4	chr1:47913800-47916800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47914600-47915600	Bivalent Enhancer	Fetal Lung	lung
6	chr1:47914800-47915200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr1:47914800-47915800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:47915000-47915200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:47915000-47915400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:47915000-47916000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr1:47915000-47916200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:47915000-47916200	Bivalent Enhancer	Fetal Stomach	stomach

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