Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79579962..79582569-chr5:79583098..79584798,2	K562	blood:

Variant related genes	Relation type
ENSG00000249438	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11738780	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11738835	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11741016	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11746107	0.81[AMR][1000 genomes]
rs11746474	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11747861	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11748899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13159481	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13160799	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13175327	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13179337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13184289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34486095	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34755440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35548365	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62364042	0.82[EUR][1000 genomes]
rs62364044	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62364055	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6861869	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6864077	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6864237	0.96[AMR][1000 genomes];1.00[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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv522634	chr5:79577760-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv964902	chr5:79578051-79585364	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518863	chr5:79578797-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79567800-79580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:79578200-79580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:79579600-79580400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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