Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21529976..21530739-chr10:21558620..21559130,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10828224	0.81[EUR][1000 genomes]
rs11012601	0.81[EUR][1000 genomes]
rs11012609	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11012610	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11012611	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11012612	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12762419	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482899	0.81[AMR][1000 genomes]
rs2035434	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34894543	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35843370	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57134456	0.84[ASN][1000 genomes]
rs60817094	0.83[ASN][1000 genomes]
rs6482168	0.81[EUR][1000 genomes]
rs6482170	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66712624	0.81[ASN][1000 genomes]
rs67699494	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67755252	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7080918	0.82[CHB][hapmap]
rs7917063	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7921613	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv530148	chr10:21065080-21724565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv971871	chr10:21460392-21579987	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831807	chr10:21509185-21688043	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv24442	chr10:21530218-21534098	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11815918	NEBL	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21522000-21549600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:21522200-21549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:21524000-21548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:21524000-21549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:21524000-21549400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:21528800-21530400	Weak transcription	Placenta	Placenta
7	chr10:21529400-21531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:21529800-21530400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:21530200-21530400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:21530200-21530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:21530200-21530600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:21530200-21530800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:21530200-21530800	Enhancers	Fetal Muscle Trunk	muscle

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