Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:130994751..130996672-chr6:131006100..131008606,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1566182	0.85[EUR][1000 genomes]
rs1587292	0.85[EUR][1000 genomes]
rs1813596	0.86[EUR][1000 genomes]
rs1909075	0.85[EUR][1000 genomes]
rs1933761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933763	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2020093	0.86[EUR][1000 genomes]
rs2133005	0.86[EUR][1000 genomes]
rs2173302	0.80[EUR][1000 genomes]
rs4632915	0.86[EUR][1000 genomes]
rs5027240	0.82[EUR][1000 genomes]
rs6933692	0.85[EUR][1000 genomes]
rs7746694	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747285	0.86[EUR][1000 genomes]
rs7774595	0.80[EUR][1000 genomes]
rs7775216	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904240	0.96[ASN][1000 genomes]
rs9321248	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9372976	0.85[EUR][1000 genomes]
rs9375757	0.95[ASN][1000 genomes]
rs9375758	0.89[EUR][1000 genomes]
rs9388824	0.92[ASN][1000 genomes]
rs9388827	0.86[EUR][1000 genomes]
rs9388828	0.86[EUR][1000 genomes]
rs9388829	0.86[EUR][1000 genomes]
rs9388830	0.84[EUR][1000 genomes]
rs9388831	0.89[EUR][1000 genomes]
rs9402266	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402267	0.85[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321247	ARHGAP18	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131005600-131017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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