Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107278392..107281833-chr7:107283832..107286049,5	K562	blood:
2	chr7:107284013..107286614-chr7:107382198..107384357,2	K562	blood:

Variant related genes	Relation type
ENSG00000105879	Chromatin interaction

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

rs_ID	r²[population]
rs10237948	0.80[EUR][1000 genomes]
rs10273733	0.84[EUR][1000 genomes]
rs10274041	0.84[EUR][1000 genomes]
rs13228252	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2178497	0.85[EUR][1000 genomes]
rs2248465	0.94[ASN][1000 genomes]
rs2293658	0.86[EUR][1000 genomes]
rs2395907	0.84[EUR][1000 genomes]
rs2701678	0.96[ASN][1000 genomes]
rs2701679	0.96[ASN][1000 genomes]
rs2701684	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2701685	0.94[ASN][1000 genomes]
rs2712227	0.91[ASN][1000 genomes]
rs2712228	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712229	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808	0.84[EUR][1000 genomes]
rs2894475	0.84[EUR][1000 genomes]
rs3779494	0.83[EUR][1000 genomes]
rs3801944	0.84[EUR][1000 genomes]
rs4330613	0.82[ASN][1000 genomes]
rs7793613	0.83[EUR][1000 genomes]
rs7803102	0.80[EUR][1000 genomes]
rs9691795	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11771278	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107282000-107286600	Enhancers	Fetal Brain Female	brain
2	chr7:107283200-107286000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:107285600-107286600	Enhancers	Fetal Brain Male	brain

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