Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47921416..47925301-chr1:47925972..47930425,4	K562	blood:
2	chr1:47904811..47906452-chr1:47922256..47924549,2	K562	blood:

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

rs_ID	r²[population]
rs11211535	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12035995	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12036198	0.81[ASN][1000 genomes]
rs12404237	0.81[ASN][1000 genomes]
rs17103251	0.88[ASN][1000 genomes]
rs17103253	0.89[ASN][1000 genomes]
rs3814005	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4926858	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs4926865	0.81[ASN][1000 genomes]
rs4926870	0.88[ASN][1000 genomes]
rs4926871	0.89[ASN][1000 genomes]
rs543640	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs564914	0.82[EUR][1000 genomes]
rs565692	0.82[EUR][1000 genomes]
rs6665045	0.81[ASN][1000 genomes]
rs6666370	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs6674100	0.86[ASN][1000 genomes]
rs6678282	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6697911	0.87[ASN][1000 genomes]
rs870357	0.88[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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10890481	KNCN	cis	cerebellum	SCAN
rs10890481	DMAP1	cis	parietal	SCAN
rs10890481	CCDC17	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47918000-47924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47921000-47925200	Weak transcription	Right Atrium	heart

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