Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55256441..55258083-chr4:55260839..55263019,2	MCF-7	breast:
2	chr4:55255971..55258181-chr4:55258208..55260924,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004564	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11133324	0.80[ASN][1000 genomes]
rs1124924	0.80[ASN][1000 genomes]
rs1156181	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11725646	0.81[ASN][1000 genomes]
rs11730655	0.81[ASN][1000 genomes]
rs11731007	0.81[ASN][1000 genomes]
rs11732321	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12108487	0.81[ASN][1000 genomes]
rs12507641	0.80[ASN][1000 genomes]
rs12647796	0.81[ASN][1000 genomes]
rs13122614	0.80[ASN][1000 genomes]
rs13146383	0.80[ASN][1000 genomes]
rs1492763	0.81[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1507949	0.80[ASN][1000 genomes]
rs1562058	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17747403	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2009664	0.80[ASN][1000 genomes]
rs2120497	0.81[ASN][1000 genomes]
rs2412581	0.81[ASN][1000 genomes]
rs34194368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35353818	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6554175	0.90[ASN][1000 genomes]
rs6554176	0.90[ASN][1000 genomes]
rs6811402	0.80[ASN][1000 genomes]
rs6811920	0.84[ASN][1000 genomes]
rs6841717	0.81[ASN][1000 genomes]
rs7658884	0.90[ASN][1000 genomes]
rs7670201	0.81[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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11133321	MAPK8	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55256600-55257000	Weak transcription	Lung	lung

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