Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27300837..27303680-chr6:27307517..27309958,2	K562	blood:
2	chr6:27306245..27308352-chr6:27309133..27310933,3	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13191227	0.91[EUR][1000 genomes]
rs13191474	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13195040	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13196692	0.91[EUR][1000 genomes]
rs13207082	0.87[EUR][1000 genomes]
rs13207689	0.92[EUR][1000 genomes]
rs13212562	0.89[EUR][1000 genomes]
rs13218537	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360634	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34071253	0.89[EUR][1000 genomes]
rs34196306	0.83[EUR][1000 genomes]
rs34332556	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573979	0.81[EUR][1000 genomes]
rs34953377	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120058	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35716472	0.89[EUR][1000 genomes]
rs35984974	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269265	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56114371	0.87[EUR][1000 genomes]
rs56401801	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58616630	0.81[EUR][1000 genomes]
rs66841633	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67859638	0.92[EUR][1000 genomes]
rs72839445	0.87[EUR][1000 genomes]
rs72839477	0.96[EUR][1000 genomes]
rs9468033	1.00[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883507	chr6:27279982-27318836	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs71537559	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs71537559	BTN3A2	cis	Thyroid	GTEx
rs71537559	BTN3A2	cis	Esophagus Muscularis	GTEx
rs71537559	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs71537559	BTN3A2	cis	Whole Blood	GTEx
rs71537559	BTN3A2	cis	Esophagus Mucosa	GTEx
rs71537559	BTN3A2	cis	Nerve Tibial	GTEx
rs71537559	BTN3A2	cis	Artery Tibial	GTEx
rs71537559	BTN3A2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27301400-27321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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