Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166793327..166795621-chr1:166800771..166803552,2	K562	blood:
2	chr1:166802375..166804720-chr1:166806248..166810304,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143157	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10800267	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10800268	0.81[EUR][1000 genomes]
rs10800269	0.89[EUR][1000 genomes]
rs10918586	0.89[EUR][1000 genomes]
rs10918587	0.87[EUR][1000 genomes]
rs12029327	0.88[EUR][1000 genomes]
rs12029367	0.88[EUR][1000 genomes]
rs12032642	0.88[EUR][1000 genomes]
rs12039764	0.88[EUR][1000 genomes]
rs12117020	0.87[EUR][1000 genomes]
rs12122547	0.88[EUR][1000 genomes]
rs1476348	0.88[EUR][1000 genomes]
rs1476349	0.88[EUR][1000 genomes]
rs1476350	0.88[EUR][1000 genomes]
rs17331024	0.89[EUR][1000 genomes]
rs2075947	0.88[EUR][1000 genomes]
rs2232521	0.91[EUR][1000 genomes]
rs2272793	0.88[EUR][1000 genomes]
rs35622400	0.88[EUR][1000 genomes]
rs3738209	0.90[EUR][1000 genomes]
rs3753910	0.87[EUR][1000 genomes]
rs4657607	0.91[EUR][1000 genomes]
rs61408535	0.88[EUR][1000 genomes]
rs6675033	0.89[EUR][1000 genomes]
rs6675750	0.89[EUR][1000 genomes]
rs6677387	0.88[EUR][1000 genomes]
rs6691431	0.91[EUR][1000 genomes]
rs742006	0.91[EUR][1000 genomes]
rs7531189	0.89[EUR][1000 genomes]
rs7543998	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548191	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs760537	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7554414	DUTP6	cis	Muscle Skeletal	GTEx
rs7554414	DUTP6	cis	Thyroid	GTEx
rs7554414	MAEL	cis	Thyroid	GTEx
rs7554414	DUTP6	cis	Artery Tibial	GTEx
rs7554414	DUTP6	cis	Artery Aorta	GTEx
rs7554414	DUTP6	cis	Esophagus Muscularis	GTEx
rs7554414	DUTP6	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166802000-166807600	Weak transcription	Spleen	Spleen
2	chr1:166803000-166803400	Active TSS	Lung	lung
3	chr1:166803000-166803600	Enhancers	Psoas Muscle	Psoas

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