Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39977842..39980355-chr7:39980860..39982451,2	K562	blood:
2	chr7:39977387..39983895-chr7:39986475..39990977,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction
ENSG00000259826	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002749	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10232503	0.90[ASN][1000 genomes]
rs10243593	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261984	0.89[ASN][1000 genomes]
rs10275761	0.81[EUR][1000 genomes]
rs1082028	0.82[EUR][1000 genomes]
rs11768464	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11980745	0.81[EUR][1000 genomes]
rs12535281	0.91[ASN][1000 genomes]
rs1257699	0.82[EUR][1000 genomes]
rs13438258	0.94[ASN][1000 genomes]
rs13438262	0.94[ASN][1000 genomes]
rs13438324	0.95[ASN][1000 genomes]
rs1403381	0.81[EUR][1000 genomes]
rs2329615	0.89[ASN][1000 genomes]
rs28627647	0.91[ASN][1000 genomes]
rs28879668	0.94[ASN][1000 genomes]
rs33999222	0.81[EUR][1000 genomes]
rs34650758	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35915527	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720344	0.95[ASN][1000 genomes]
rs6956091	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961040	0.95[ASN][1000 genomes]
rs6963973	0.94[ASN][1000 genomes]
rs6966917	0.81[EUR][1000 genomes]
rs6967332	0.91[ASN][1000 genomes]
rs6970469	0.91[ASN][1000 genomes]
rs773385	0.82[EUR][1000 genomes]
rs773386	0.82[EUR][1000 genomes]
rs773403	0.82[EUR][1000 genomes]
rs773413	0.81[EUR][1000 genomes]
rs773414	0.82[EUR][1000 genomes]
rs773424	0.82[EUR][1000 genomes]
rs7790624	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7797041	0.81[EUR][1000 genomes]
rs940272	0.91[ASN][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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39977800-39980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:39979800-39987800	Weak transcription	Right Atrium	heart

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