Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81968116..81969902-chr3:81973558..81976369,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10779986	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779987	0.89[EUR][1000 genomes]
rs11127746	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11711331	0.83[MEX][hapmap]
rs13068700	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13079104	0.81[CHD][hapmap]
rs1851918	0.85[EUR][1000 genomes]
rs1851926	0.87[EUR][1000 genomes]
rs1851928	0.87[EUR][1000 genomes]
rs1969433	0.90[EUR][1000 genomes]
rs35779564	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3849570	0.82[MEX][hapmap]
rs4481177	0.83[ASN][1000 genomes]
rs4622918	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6548779	0.82[EUR][1000 genomes]
rs6766011	0.85[EUR][1000 genomes]
rs6778265	0.85[EUR][1000 genomes]
rs6797240	0.89[EUR][1000 genomes]
rs9817070	0.84[EUR][1000 genomes]
rs9820349	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9854004	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870954	0.88[EUR][1000 genomes]
rs9877408	0.88[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	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11705789	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81965200-81970200	Weak transcription	Fetal Heart	heart
2	chr3:81965200-81971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:81967400-81970000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:81968800-81969600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:81969000-81969600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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