Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106406591..106409447-chr12:106413287..106415312,2	MCF-7	breast:
2	chr12:106327212..106329801-chr12:106406845..106409273,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037993	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34404995	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[EUR][1000 genomes]
rs7135356	1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391203	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv871	chr12:106407516-106429806	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106402600-106410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106406800-106408400	Enhancers	HSMMtube	muscle
3	chr12:106407400-106408200	Enhancers	Psoas Muscle	Psoas

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