Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:68326933..68329428-chr12:68332676..68334378,2	MCF-7	breast:
2	chr12:68325726..68328495-chr12:68330999..68332774,2	MCF-7	breast:
3	chr12:68275094..68278065-chr12:68327324..68329137,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11176947	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176950	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176951	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176955	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11176956	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11176960	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs11176996	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12578962	0.84[AMR][1000 genomes]
rs12582501	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17104563	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2870807	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913265	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913372	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4913373	0.82[ASN][1000 genomes]
rs58642438	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60650476	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7311772	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs73322794	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7954639	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7972825	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9888334	0.82[AMR][1000 genomes];0.95[EUR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:68320600-68331800	Weak transcription	Left Ventricle	heart
4	chr12:68324200-68332600	Weak transcription	Psoas Muscle	Psoas
5	chr12:68324200-68333200	Weak transcription	Fetal Heart	heart
6	chr12:68324800-68328800	Weak transcription	Stomach Mucosa	stomach
7	chr12:68324800-68332600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:68326200-68332800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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