Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76999683..77002474-chr4:77050888..77053067,2	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12651516	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17001390	0.83[ASN][1000 genomes]
rs34747816	0.87[ASN][1000 genomes]
rs41349449	0.87[ASN][1000 genomes]
rs41411447	0.87[ASN][1000 genomes]
rs4859418	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56670659	0.81[ASN][1000 genomes]
rs57268096	0.81[ASN][1000 genomes]
rs58232272	0.83[ASN][1000 genomes]
rs59547714	0.81[ASN][1000 genomes]
rs59765882	0.87[ASN][1000 genomes]
rs61293119	0.87[ASN][1000 genomes]
rs61693363	0.87[ASN][1000 genomes]
rs62318915	0.84[ASN][1000 genomes]
rs6836715	0.82[ASN][1000 genomes]
rs6838303	0.82[ASN][1000 genomes]
rs7656282	0.87[ASN][1000 genomes]
rs7656734	0.87[ASN][1000 genomes]
rs7661431	0.87[ASN][1000 genomes]
rs7662240	0.87[ASN][1000 genomes]
rs7670483	0.85[ASN][1000 genomes]
rs7675618	0.85[ASN][1000 genomes]
rs7679084	0.87[ASN][1000 genomes]
rs7679283	0.87[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4859420	NUP54	cis	Thyroid	GTEx
rs4859420	NUP54	cis	Nerve Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76995600-77000800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:76997000-77007200	Weak transcription	Fetal Brain Male	brain
3	chr4:76997000-77008000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76998400-77001000	Enhancers	Fetal Heart	heart
5	chr4:76999000-77008200	Weak transcription	Right Ventricle	heart
6	chr4:76999400-77004200	Weak transcription	Psoas Muscle	Psoas
7	chr4:76999600-77008000	Weak transcription	Liver	Liver
8	chr4:76999800-77000400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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