Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000118523	Chromatin interaction
ENSG00000227220	Chromatin interaction

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

rs_ID	r²[population]
rs11961001	0.89[CEU][hapmap]
rs11962845	0.89[CEU][hapmap]
rs11967791	0.89[CEU][hapmap]
rs12110962	0.85[ASN][1000 genomes]
rs12332897	0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs12662375	0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs13209044	0.92[CEU][hapmap]
rs13209246	0.93[CEU][hapmap]
rs13214079	0.89[CEU][hapmap]
rs17277038	0.89[CEU][hapmap]
rs1980442	0.84[CEU][hapmap]
rs56796210	0.85[ASN][1000 genomes]
rs73781421	0.85[ASN][1000 genomes]
rs73781422	0.85[ASN][1000 genomes]
rs73781424	0.85[ASN][1000 genomes]
rs9321320	0.89[CEU][hapmap]
rs9483384	0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs9493175	0.89[CEU][hapmap]
rs9493178	0.85[ASN][1000 genomes]
rs9493179	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs9493181	0.89[CHB][hapmap];0.85[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	esv2762616	chr6:132404708-132584324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41529847	C6orf192	cis	parietal	SCAN
rs41529847	LOC285735	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132423200-132436800	Weak transcription	Aorta	Aorta
2	chr6:132423600-132435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:132434800-132436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:132435000-132435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:132435000-132435400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:132435000-132435400	Enhancers	Brain Hippocampus Middle	brain
7	chr6:132435000-132435400	Enhancers	Osteobl	bone
8	chr6:132435000-132435600	Enhancers	Fetal Stomach	stomach
9	chr6:132435000-132435800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:132435000-132435800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:132435000-132436200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:132435000-132436800	Enhancers	HMEC	breast
13	chr6:132435000-132437000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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