Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77014220..77016956-chr4:77022006..77024608,2	K562	blood:
2	chr4:77022675..77026827-chr4:77067488..77070849,4	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000265931	Chromatin interaction

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

rs_ID	r²[population]
rs10017484	1.00[CHB][hapmap]
rs10022137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022519	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030683	0.92[ASN][1000 genomes]
rs12331521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241591	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4274876	0.92[ASN][1000 genomes]
rs4440243	1.00[ASN][1000 genomes]
rs4624679	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4859613	0.92[ASN][1000 genomes]
rs4859619	0.92[ASN][1000 genomes]
rs4859622	0.84[ASN][1000 genomes]
rs6532181	0.92[ASN][1000 genomes]
rs6814012	1.00[CHB][hapmap]
rs6814817	1.00[CHB][hapmap]
rs6856609	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7654988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682766	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7697711	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9990550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992976	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11097232	ART3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77015200-77025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:77016400-77025000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart
4	chr4:77021200-77026600	Weak transcription	Brain Hippocampus Middle	brain

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