Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:55164082..55167109-chr2:55181433..55184478,3	K562	blood:
2	chr2:55164941..55167851-chr2:55169428..55172697,4	K562	blood:
3	chr2:55152934..55155386-chr2:55163705..55166391,2	K562	blood:
4	chr2:55164082..55168413-chr2:55180367..55184478,5	K562	blood:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10196667	1.00[ASN][1000 genomes]
rs10746530	1.00[ASN][1000 genomes]
rs11125551	0.94[ASN][1000 genomes]
rs11904457	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12475185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13002841	1.00[AFR][1000 genomes]
rs13008105	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13020490	1.00[ASN][1000 genomes]
rs13023202	1.00[AFR][1000 genomes]
rs13026576	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028800	0.97[ASN][1000 genomes]
rs17418111	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2580766	1.00[AFR][1000 genomes]
rs2588520	1.00[AFR][1000 genomes]
rs2919125	1.00[AFR][1000 genomes]
rs34227740	1.00[AFR][1000 genomes]
rs34564860	1.00[AFR][1000 genomes]
rs36024305	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36063689	0.91[ASN][1000 genomes]
rs4233956	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4504034	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4525735	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4671233	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4671998	1.00[ASN][1000 genomes]
rs6545462	0.97[ASN][1000 genomes]
rs67721747	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7559248	1.00[AFR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55777421	RTN4	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55150000-55168400	Weak transcription	Pancreas	Pancrea
2	chr2:55154200-55166600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55154400-55168000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55154800-55167800	Weak transcription	Brain Angular Gyrus	brain

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