Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220529781..220531415-chr1:220536320..220538470,2	K562	blood:

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

rs_ID	r²[population]
rs17565935	0.85[AMR][1000 genomes]
rs17566172	0.81[AMR][1000 genomes]
rs17567252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17641091	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17641428	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55673394	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55807644	0.81[AMR][1000 genomes]
rs55991348	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56040283	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56103229	0.81[AMR][1000 genomes]
rs56129807	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56232675	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730664	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72730668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749218	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72749219	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72749221	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72749222	0.85[AMR][1000 genomes]
rs72749226	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72749236	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7519416	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220529600-220536600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:220530400-220531400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:220530400-220531800	Enhancers	Fetal Heart	heart
4	chr1:220530400-220531800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:220530600-220536000	Weak transcription	Psoas Muscle	Psoas
6	chr1:220530800-220531200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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