Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45785037..45787467-chr10:45963806..45965964,2	K562	blood:
2	chr10:45784676..45786999-chr10:45793740..45796267,2	K562	blood:

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

rs_ID	r²[population]
rs1073450	0.81[EUR][1000 genomes]
rs1073451	0.80[EUR][1000 genomes]
rs11239419	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239421	0.99[ASN][1000 genomes]
rs12266548	0.92[ASN][1000 genomes]
rs1578206	0.90[ASN][1000 genomes]
rs1583420	0.99[ASN][1000 genomes]
rs1583421	0.99[ASN][1000 genomes]
rs1836468	0.99[ASN][1000 genomes]
rs1836469	0.99[ASN][1000 genomes]
rs1836470	0.99[ASN][1000 genomes]
rs1856593	0.86[ASN][1000 genomes]
rs1856594	0.84[ASN][1000 genomes]
rs1988025	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948663	0.97[ASN][1000 genomes]
rs4948669	0.97[ASN][1000 genomes]
rs4948670	0.99[ASN][1000 genomes]
rs4948987	0.99[ASN][1000 genomes]
rs4948988	0.99[ASN][1000 genomes]
rs6593477	0.99[ASN][1000 genomes]
rs7071166	0.84[ASN][1000 genomes]
rs7097007	0.99[ASN][1000 genomes]
rs7912175	0.99[ASN][1000 genomes]
rs984955	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	esv2750897	chr10:45550145-45820136	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12765621	C10orf10	cis	parietal	SCAN
rs12765621	CDC37L1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45786000-45790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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