Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41334681..41337499-chr12:41339129..41340865,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1056019	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784967	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879401	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879420	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879442	0.88[ASN][1000 genomes]
rs10879443	0.88[ASN][1000 genomes]
rs1372539	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372541	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1442193	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1470210	0.86[ASN][1000 genomes]
rs1946969	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278916	0.85[ASN][1000 genomes]
rs34169502	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs443310	0.85[ASN][1000 genomes]
rs6582087	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712132	0.88[ASN][1000 genomes]
rs712133	0.87[ASN][1000 genomes]
rs712134	0.86[ASN][1000 genomes]
rs712137	0.85[ASN][1000 genomes]
rs7131810	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303364	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311097	0.89[ASN][1000 genomes]
rs880180	0.86[ASN][1000 genomes]
rs935101	0.86[ASN][1000 genomes]

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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826346	chr12:41313148-41374833	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41317800-41356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:41321800-41344600	Weak transcription	Ovary	ovary
5	chr12:41333400-41352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:41338800-41340800	Weak transcription	A549	lung
7	chr12:41339000-41365600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:41339800-41346800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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