Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211376596..211378898-chr1:211381344..211382973,2	K562	blood:
2	chr1:211377631..211380147-chr1:211432111..211434053,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11119713	0.83[EUR][1000 genomes]
rs11803005	0.83[EUR][1000 genomes]
rs11806910	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12567304	1.00[CHB][hapmap]
rs12723208	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs12729996	0.88[CEU][hapmap]
rs12752670	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs12754607	0.89[CEU][hapmap]
rs12754747	0.80[CEU][hapmap]
rs12756590	0.85[EUR][1000 genomes]
rs17188916	0.89[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs17188937	0.88[CEU][hapmap]
rs17267484	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17267491	0.89[CEU][hapmap]
rs17267554	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs17267561	0.89[CEU][hapmap]
rs1890326	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280079	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs34355723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34813082	0.83[EUR][1000 genomes]
rs35228985	0.83[EUR][1000 genomes]
rs35374835	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995968	0.84[EUR][1000 genomes]
rs60096533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540681	0.89[CEU][hapmap]
rs66526219	0.83[EUR][1000 genomes]
rs6679980	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs6686281	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67437198	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7556054	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv1806574	chr1:211369721-211383129	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1808906	chr1:211369721-211383129	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv945277	chr1:211377389-211382878	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12731366	C1orf97	cis	multi-tissue	Pritchard
rs12731366	FCAMR	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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