Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31217034-31219671	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31216667-31219322	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
OSBP2	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11089483	1.00[EUR][1000 genomes]
rs12166075	1.00[EUR][1000 genomes]
rs12166445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166521	1.00[EUR][1000 genomes]
rs12166797	1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12168997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989230	1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs34199962	1.00[AMR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619139	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9619140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	1.00[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31199800-31218000	Weak transcription	Gastric	stomach
2	chr22:31203000-31217800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr22:31203600-31217800	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:31206800-31218000	Weak transcription	HSMM	muscle
5	chr22:31207000-31218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31209000-31218000	Weak transcription	A549	lung
7	chr22:31211000-31217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:31213800-31218200	Weak transcription	HSMMtube	muscle
9	chr22:31216600-31218000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr22:31217000-31217800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:31217000-31217800	Enhancers	Brain Angular Gyrus	brain
12	chr22:31217000-31218000	Enhancers	Brain Anterior Caudate	brain
13	chr22:31217400-31217800	Enhancers	Hela-S3	cervix
14	chr22:31217400-31218000	Bivalent Enhancer	Placenta	Placenta
15	chr22:31217400-31218000	Enhancers	NHEK	skin
16	chr22:31217400-31219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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