Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222117033..222118871-chr1:222121087..222123565,2	K562	blood:

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

rs_ID	r²[population]
rs11577080	0.86[EUR][1000 genomes]
rs11577500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11579174	0.86[EUR][1000 genomes]
rs11588303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11588357	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11588746	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11588928	0.86[EUR][1000 genomes]
rs11589323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11589814	0.86[EUR][1000 genomes]
rs11589963	0.86[EUR][1000 genomes]
rs11589997	0.86[EUR][1000 genomes]
rs11590034	0.86[EUR][1000 genomes]
rs11590843	0.86[EUR][1000 genomes]
rs17011141	0.96[ASN][1000 genomes]
rs17011142	0.86[EUR][1000 genomes]
rs57043108	0.97[ASN][1000 genomes]
rs60497013	0.97[ASN][1000 genomes]
rs61075300	0.88[ASN][1000 genomes]
rs74145035	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs949618	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv945304	chr1:222114347-222131255	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222098000-222118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:222114200-222118600	Weak transcription	HSMM	muscle
3	chr1:222115400-222131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:222117800-222120400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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