Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41379403..41382000-chr19:56843629..56845735,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10219667	1.00[ASN][1000 genomes]
rs10467081	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10467178	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10784938	1.00[ASN][1000 genomes]
rs11178754	1.00[ASN][1000 genomes]
rs11178926	1.00[ASN][1000 genomes]
rs11178970	1.00[ASN][1000 genomes]
rs12297752	1.00[ASN][1000 genomes]
rs12299167	1.00[ASN][1000 genomes]
rs12300069	1.00[ASN][1000 genomes]
rs12307310	1.00[ASN][1000 genomes]
rs12313239	1.00[ASN][1000 genomes]
rs12314887	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17128887	1.00[ASN][1000 genomes]
rs17128970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56941788	1.00[AMR][1000 genomes]
rs60183405	1.00[ASN][1000 genomes]
rs60302627	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60449393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9652035	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41374800-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41377400-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:41381200-41383800	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:41381200-41384600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41381800-41382200	Enhancers	Fetal Stomach	stomach
7	chr12:41381800-41383800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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