Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48394829..48397203-chr12:48403090..48404738,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10492082	0.85[ASN][1000 genomes]
rs10875733	0.80[ASN][1000 genomes]
rs11168350	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168353	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168354	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168358	0.97[ASN][1000 genomes]
rs11168361	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168363	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168364	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168373	0.80[ASN][1000 genomes]
rs17122567	0.96[ASN][1000 genomes]
rs1859443	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2056448	0.84[ASN][1000 genomes]
rs2240306	0.81[ASN][1000 genomes]
rs2408954	0.85[ASN][1000 genomes]
rs58086963	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59667534	0.85[ASN][1000 genomes]
rs7135261	0.93[EUR][1000 genomes]
rs954326	0.81[ASN][1000 genomes]
rs9651981	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9669263	0.84[ASN][1000 genomes]
rs9804751	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48403000-48410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48404000-48405200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48404400-48404800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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