Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50279441..50281819-chr5:50283644..50286120,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10472053	0.95[ASN][1000 genomes]
rs10940613	0.83[ASN][1000 genomes]
rs12659587	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs13177246	0.83[ASN][1000 genomes]
rs1423227	0.81[ASN][1000 genomes]
rs2289879	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2289880	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs250216	0.83[ASN][1000 genomes]
rs250229	0.83[ASN][1000 genomes]
rs250233	0.83[YRI][hapmap]
rs250237	0.89[ASW][hapmap];0.89[LWK][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap]
rs250238	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.86[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35192063	0.83[ASN][1000 genomes]
rs35477295	0.83[ASN][1000 genomes]
rs35894462	0.83[ASN][1000 genomes]
rs3843453	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4866019	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs4866020	0.83[ASN][1000 genomes]
rs4866022	0.87[ASN][1000 genomes]
rs679362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863757	0.88[ASN][1000 genomes]
rs6869973	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs622304	GUCY1B3	trans	lymphoblastoid	seeQTL
rs622304	TTC33	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50279600-50280800	Enhancers	Fetal Intestine Large	intestine
2	chr5:50279800-50280200	Enhancers	Duodenum Mucosa	Duodenum
3	chr5:50279800-50280600	Enhancers	Fetal Intestine Small	intestine

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