Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44782966..44785826-chr12:44799216..44800992,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12320849	1.00[ASN][1000 genomes]
rs17094494	1.00[EUR][1000 genomes]
rs17094615	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17094697	0.84[EUR][1000 genomes]
rs17121314	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1948461	0.83[EUR][1000 genomes]
rs2068103	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55923007	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55956897	0.84[EUR][1000 genomes]
rs57673436	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61035347	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73094339	0.83[EUR][1000 genomes]
rs73094354	0.83[EUR][1000 genomes]
rs73096306	0.84[EUR][1000 genomes]
rs7310784	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310993	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085178	0.95[EUR][1000 genomes]
rs7955106	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958792	0.83[EUR][1000 genomes]
rs7974460	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840772	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
3	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44780800-44784400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:44783000-44789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44784200-44785600	Weak transcription	Rectal Smooth Muscle	rectum

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