Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133018085-133018205	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CCNG1P1	TF binding region

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2223613	0.90[AMR][1000 genomes]
rs2247269	0.90[AMR][1000 genomes]
rs2247284	0.90[AMR][1000 genomes]
rs2247285	0.90[AMR][1000 genomes]
rs2262437	0.89[AMR][1000 genomes]
rs2262438	0.90[AMR][1000 genomes]
rs2300077	0.80[AMR][1000 genomes]
rs2327275	0.87[AMR][1000 genomes]
rs2745435	0.90[AMR][1000 genomes]
rs2745436	0.90[AMR][1000 genomes]
rs2745437	0.90[AMR][1000 genomes]
rs2745439	0.90[AMR][1000 genomes]
rs2745441	0.90[AMR][1000 genomes]
rs2745442	0.90[AMR][1000 genomes]
rs2745443	0.89[AMR][1000 genomes]
rs2840815	0.90[AMR][1000 genomes]
rs2840816	0.90[AMR][1000 genomes]
rs2840817	0.90[AMR][1000 genomes]
rs2840818	0.90[AMR][1000 genomes]
rs2840819	0.83[AMR][1000 genomes]
rs2840820	0.90[AMR][1000 genomes]
rs2840821	0.90[AMR][1000 genomes]
rs2840822	0.90[AMR][1000 genomes]
rs2840823	0.90[AMR][1000 genomes]
rs2840824	0.90[AMR][1000 genomes]
rs2840825	0.89[AMR][1000 genomes]
rs2840826	0.87[AMR][1000 genomes]
rs3798792	0.82[AMR][1000 genomes]
rs4897600	0.89[AMR][1000 genomes]
rs4897602	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4897603	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4897604	0.88[AMR][1000 genomes]
rs6936833	0.87[AMR][1000 genomes]
rs6938196	0.87[AMR][1000 genomes]
rs9389027	0.90[AMR][1000 genomes]
rs9399038	0.87[AMR][1000 genomes]
rs990499	0.87[AMR][1000 genomes]
rs990500	0.87[AMR][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4897601	VNN1	cis	Adipose Subcutaneous	GTEx
rs4897601	VNN1	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133015200-133019400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:133015200-133019800	Weak transcription	Stomach Mucosa	stomach
3	chr6:133015400-133021200	Strong transcription	Liver	Liver
4	chr6:133017800-133018200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr6:133017800-133032200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:133018000-133020000	Weak transcription	Monocytes-CD14+_RO01746	blood

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