Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31215752-31215869	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31213308..31216995-chr22:31217117..31220399,3	MCF-7	breast:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

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

rs_ID	r²[population]
rs13055067	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136232	1.00[ASN][1000 genomes]
rs136233	0.83[ASN][1000 genomes]
rs136241	0.80[ASN][1000 genomes]
rs136252	0.80[ASN][1000 genomes]
rs28861993	0.81[EUR][1000 genomes]
rs5749166	0.83[EUR][1000 genomes]
rs5749167	0.83[ASN][1000 genomes]
rs5749171	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749173	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753321	0.81[EUR][1000 genomes]
rs5753323	0.81[EUR][1000 genomes]
rs5753334	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753335	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753336	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753337	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753340	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753341	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753348	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57707485	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62235914	0.81[EUR][1000 genomes]
rs62235916	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62235942	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs742205	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31199800-31218000	Weak transcription	Gastric	stomach
2	chr22:31201600-31217000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:31203000-31217800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr22:31203600-31217800	Weak transcription	Brain Hippocampus Middle	brain
5	chr22:31205600-31217000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31206400-31217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31206800-31218000	Weak transcription	HSMM	muscle
8	chr22:31207000-31218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:31209000-31218000	Weak transcription	A549	lung
10	chr22:31209600-31216000	Strong transcription	NHEK	skin
11	chr22:31211000-31217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:31213800-31218200	Weak transcription	HSMMtube	muscle
13	chr22:31214600-31216600	Weak transcription	Hela-S3	cervix

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