Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56276249..56278200-chr12:56283079..56285139,3	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10128982	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747760	0.83[AMR][1000 genomes]
rs10876858	0.88[ASN][1000 genomes]
rs10876861	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11171688	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12298127	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320309	0.89[ASN][1000 genomes]
rs1681070	0.87[AMR][1000 genomes]
rs1701698	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1701699	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1807168	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4414258	0.84[AMR][1000 genomes]
rs6581086	0.86[ASN][1000 genomes]
rs6581087	0.88[AMR][1000 genomes]
rs705711	0.84[AMR][1000 genomes]
rs705715	0.84[AMR][1000 genomes]
rs7135133	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs772461	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs772462	0.80[AMR][1000 genomes]
rs772468	0.84[AMR][1000 genomes]
rs772473	0.83[AMR][1000 genomes]
rs772475	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979046	0.89[ASN][1000 genomes]
rs9739192	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9739196	0.86[EUR][1000 genomes];0.84[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	nsv719	chr12:56246405-56290812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
3	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 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	chr12:56270600-56292600	Weak transcription	HSMMtube	muscle
2	chr12:56273800-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:56277000-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:56283000-56294800	Weak transcription	Thymus	Thymus

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