Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210401280..210402827-chr1:210406098..210408513,2	MCF-7	breast:
2	chr1:210401819..210404009-chr1:210544482..210546345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

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

rs_ID	r²[population]
rs10863816	0.91[EUR][1000 genomes]
rs11119444	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1338298	0.91[EUR][1000 genomes]
rs1342135	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1473696	0.91[EUR][1000 genomes]
rs2473813	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2473814	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2487904	0.89[ASN][1000 genomes]
rs2494180	0.89[ASN][1000 genomes]
rs2494185	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2494186	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844981	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624270	0.94[ASN][1000 genomes]
rs654523	0.94[ASN][1000 genomes]
rs656312	0.92[ASN][1000 genomes]
rs660611	0.88[ASN][1000 genomes]
rs674513	0.88[ASN][1000 genomes]
rs677520	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7534368	0.90[EUR][1000 genomes]
rs845451	0.85[ASN][1000 genomes]
rs910109	0.90[EUR][1000 genomes]
rs910110	0.90[EUR][1000 genomes]
rs9429839	0.90[EUR][1000 genomes]
rs9430037	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210397200-210405000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:210400200-210405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:210401000-210404400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:210401200-210404400	Weak transcription	Colon Smooth Muscle	Colon

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