Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100222273..100224210-chr3:100224427..100226552,2	MCF-7	breast:
2	chr3:100223819..100226546-chr3:100278387..100280619,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11920006	0.84[ASN][1000 genomes]
rs11923942	0.81[ASN][1000 genomes]
rs11926280	0.89[ASN][1000 genomes]
rs11927516	0.83[ASN][1000 genomes]
rs12636805	0.82[ASN][1000 genomes]
rs4132537	0.89[ASN][1000 genomes]
rs4928097	0.83[ASN][1000 genomes]
rs4928098	0.84[ASN][1000 genomes]
rs56402168	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56779007	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58059387	0.84[ASN][1000 genomes]
rs59299896	0.83[ASN][1000 genomes]
rs59771628	0.84[ASN][1000 genomes]
rs60071944	0.83[ASN][1000 genomes]
rs62276520	0.83[ASN][1000 genomes]
rs62276521	0.83[ASN][1000 genomes]
rs62276526	0.90[ASN][1000 genomes]
rs62276527	0.89[ASN][1000 genomes]
rs6441285	0.80[ASN][1000 genomes]
rs6441300	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6763079	0.83[ASN][1000 genomes]
rs6763178	0.83[ASN][1000 genomes]
rs67774605	0.83[ASN][1000 genomes]
rs6789867	0.84[ASN][1000 genomes]
rs7430698	0.90[ASN][1000 genomes]
rs7430715	0.90[ASN][1000 genomes]
rs7619507	0.80[ASN][1000 genomes]
rs7630198	0.84[ASN][1000 genomes]
rs7650523	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7653196	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9810780	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9851429	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9813069	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100212800-100224800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:100216200-100224400	Weak transcription	HSMMtube	muscle
3	chr3:100216200-100225400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:100216200-100229000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:100217400-100224800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:100219800-100224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:100220200-100224600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:100220400-100224800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:100220400-100226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:100220600-100224800	Weak transcription	Osteobl	bone
11	chr3:100221200-100224600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:100223000-100224600	Weak transcription	Ovary	ovary
13	chr3:100223600-100224800	ZNF genes & repeats	Fetal Lung	lung
14	chr3:100224200-100225200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:100224200-100226000	Enhancers	Liver	Liver

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