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:23)

rs_ID	r²[population]
rs10774496	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10849647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849651	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10849652	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849653	0.83[ASN][1000 genomes]
rs10849654	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10849657	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10849658	0.95[ASN][1000 genomes]
rs10849659	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11064757	0.85[JPT][hapmap]
rs11064761	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11064763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11064764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12370130	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs34765258	0.92[ASN][1000 genomes]
rs4300442	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs4346024	0.93[ASN][1000 genomes]
rs4465416	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4991185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs56686166	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7298161	0.93[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7301599	0.93[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7313792	0.93[CHB][hapmap];0.95[JPT][hapmap]

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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