Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12419697..12421689-chr12:12437095..12439954,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10431302	0.82[GIH][hapmap]
rs10492120	1.00[CHB][hapmap]
rs10743980	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs10772540	0.89[CHB][hapmap]
rs10772542	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs10772547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845494	0.90[CHB][hapmap]
rs11054721	0.81[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs11054724	0.90[CHB][hapmap]
rs12823243	0.90[CHB][hapmap]
rs17819999	0.81[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs1819871	0.90[CHB][hapmap]
rs2417085	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2417086	0.90[CHB][hapmap]
rs3782528	0.90[CHB][hapmap]
rs4763794	0.91[GIH][hapmap]
rs4763795	0.93[GIH][hapmap];0.88[MEX][hapmap]
rs7135274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955369	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956548	0.90[CHB][hapmap]
rs7962366	0.93[GIH][hapmap];0.84[MEX][hapmap];0.80[EUR][1000 genomes]
rs7962627	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966410	0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7968660	0.83[CHB][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:12434400-12443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:12436600-12446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:12437000-12442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:12437000-12447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:12437600-12441200	Weak transcription	A549	lung
6	chr12:12437600-12443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:12437600-12443800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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