Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr21:16440686-16441024	HepG2	liver:	n/a	n/a
2	FOXA1	chr21:16440690-16441005	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:16440702-16440996	HepG2	liver:	n/a	n/a
4	MAFK	chr21:16440706-16440812	HepG2	liver:	n/a	n/a
5	MAFK	chr21:16440748-16440890	HepG2	liver:	n/a	n/a
6	FOXA1	chr21:16440572-16440984	HepG2	liver:	n/a	n/a
7	FOXA2	chr21:16440671-16441000	HepG2	liver:	n/a	n/a
8	CEBPB	chr21:16440673-16440918	HepG2	liver:	n/a	n/a
9	FOXA1	chr21:16440670-16441122	HepG2	liver:	n/a	n/a
10	MAFF	chr21:16440710-16440808	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NRIP1	TF binding region

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

rs_ID	r²[population]
rs1297219	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997576	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2142220	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2142221	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2205238	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2205239	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2243778	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2252756	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253879	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2254152	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2254269	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2254729	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254956	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2255190	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2403876	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2776045	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2823032	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8132765	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134191	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs972136	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16438400-16443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:16439000-16441000	Enhancers	HepG2	liver
3	chr21:16439200-16440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16439400-16440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16440600-16441000	Enhancers	Fetal Intestine Large	intestine

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