Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29241432..29243000-chr12:29300998..29303839,2	MCF-7	breast:
2	chr12:29241262..29242110-chr12:29395220..29395818,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257258	Chromatin interaction
ENSG00000064763	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10771462	0.82[AMR][1000 genomes]
rs11049998	0.95[AMR][1000 genomes]
rs11050038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050069	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11050080	0.87[AMR][1000 genomes]
rs11050082	0.85[AMR][1000 genomes]
rs11050085	0.85[AMR][1000 genomes]
rs11050094	0.82[AMR][1000 genomes]
rs11050097	0.80[AMR][1000 genomes]
rs11050105	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs11050116	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11050119	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11050122	1.00[JPT][hapmap]
rs11537408	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11561209	0.96[ASN][1000 genomes]
rs12578244	0.87[AMR][1000 genomes]
rs12578576	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs4141944	0.87[AMR][1000 genomes]
rs7136405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73073792	0.82[AMR][1000 genomes]
rs7308340	0.85[AMR][1000 genomes]
rs7316695	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs7959020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972016	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7973139	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7974723	0.93[ASN][1000 genomes]
rs7976269	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs924108	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29240600-29245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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