Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119616454..119617961-chr12:119842773..119844959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774493	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10849649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11064769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11064774	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306360	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306535	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12830127	1.00[ASN][1000 genomes]
rs2285401	1.00[CHB][hapmap]
rs2393547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34161061	1.00[ASN][1000 genomes]
rs35135358	1.00[ASN][1000 genomes]
rs35143406	1.00[ASN][1000 genomes]
rs35785729	1.00[ASN][1000 genomes]
rs4238064	1.00[ASN][1000 genomes]
rs4767814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4767816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7296648	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7297109	1.00[ASN][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119843000-119847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:119844200-119844400	Enhancers	Stomach Smooth Muscle	stomach
4	chr12:119844200-119845000	Enhancers	Fetal Heart	heart

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