Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12119486..12122016-chr12:12155612..12157383,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12315516	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12316914	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1871286	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1904239	0.82[EUR][1000 genomes]
rs1904241	0.82[EUR][1000 genomes]
rs1904242	0.82[EUR][1000 genomes]
rs4237936	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4763743	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4763744	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4763748	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763749	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488475	0.83[EUR][1000 genomes]
rs6488476	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6488483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138656	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7303792	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305426	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7308547	0.86[AMR][1000 genomes]
rs7312970	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954303	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958862	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962986	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7965081	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968948	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7968953	0.88[AMR][1000 genomes];0.86[EUR][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	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	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12152200-12156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12152200-12160200	Weak transcription	Fetal Thymus	thymus
4	chr12:12152400-12160000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:12153000-12160000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:12153200-12155800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:12153200-12159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:12153200-12160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:12153200-12160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:12154600-12163200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:12155000-12155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:12155400-12155800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:12155400-12155800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:12155600-12156000	Enhancers	Primary T cells fromperipheralblood	blood

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