Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122284827..122287337-chr12:122291001..122292909,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10840622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840624	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11043213	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11043216	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043217	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11043218	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11043219	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043220	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11043223	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11043225	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12825161	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1610041	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35599566	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35892692	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3970383	0.92[ASN][1000 genomes]
rs6486780	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66611928	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68055743	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969671	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35633723	HPD	cis	Muscle Skeletal	GTEx
rs35633723	RP11-7M8.2	cis	Muscle Skeletal	GTEx
rs35633723	HPD	cis	Heart Left Ventricle	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
4	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
6	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122281800-122288600	Strong transcription	Liver	Liver
8	chr12:122282000-122287800	Weak transcription	K562	blood
9	chr12:122284000-122287200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:122284200-122287800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122286000-122287000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:122286400-122287600	Strong transcription	HepG2	liver
13	chr12:122286600-122287200	Enhancers	Primary neutrophils fromperipheralblood	blood

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