Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49912918..49914699-chr15:50001651..50003780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104047	Chromatin interaction
ENSG00000166262	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10851479	0.84[EUR][1000 genomes]
rs11634947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852336	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12232355	0.81[EUR][1000 genomes]
rs12591317	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12591659	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12902960	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12906134	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12906972	0.81[EUR][1000 genomes]
rs12907944	0.84[EUR][1000 genomes]
rs12908635	0.81[EUR][1000 genomes]
rs12912703	0.83[EUR][1000 genomes]
rs1395901	0.82[EUR][1000 genomes]
rs17404727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483319	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1911612	0.81[EUR][1000 genomes]
rs1948975	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34694913	0.80[EUR][1000 genomes]
rs34941109	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775816	0.83[EUR][1000 genomes]
rs62022665	0.83[EUR][1000 genomes]
rs7172906	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7180421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8032688	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs925104	0.81[AMR][1000 genomes];0.86[EUR][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv569393	chr15:49977687-50012256	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62022700	COPS2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49999600-50002600	Weak transcription	Aorta	Aorta
2	chr15:50001200-50002400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr15:50001600-50003200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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