Variant report

Variant	rs16997443
Chromosome Location	chr19:21154373-21154374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21153393-21155054	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000268326	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1004397	0.81[ASN][1000 genomes]
rs10405074	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405197	0.81[ASN][1000 genomes]
rs10412338	1.00[ASN][1000 genomes]
rs10412523	1.00[ASN][1000 genomes]
rs10414014	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416206	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10418943	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419167	1.00[ASN][1000 genomes]
rs10420060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420272	0.93[ASN][1000 genomes]
rs10420474	0.94[ASN][1000 genomes]
rs10422272	1.00[ASN][1000 genomes]
rs10422308	0.99[ASN][1000 genomes]
rs10426078	0.99[ASN][1000 genomes]
rs10426307	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10854041	0.81[ASN][1000 genomes]
rs11085403	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11085417	0.81[ASN][1000 genomes]
rs11085418	0.81[ASN][1000 genomes]
rs11672995	0.81[ASN][1000 genomes]
rs13343465	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13345292	0.99[ASN][1000 genomes]
rs13345335	0.99[ASN][1000 genomes]
rs1465429	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16997414	1.00[ASN][1000 genomes]
rs16997445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985456	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042265	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042266	0.81[ASN][1000 genomes]
rs2042267	0.81[ASN][1000 genomes]
rs2042268	0.81[ASN][1000 genomes]
rs2161464	0.81[ASN][1000 genomes]
rs55638859	0.81[ASN][1000 genomes]
rs55672800	0.81[ASN][1000 genomes]
rs55965424	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56033918	0.81[ASN][1000 genomes]
rs56103246	0.81[ASN][1000 genomes]
rs56142010	0.82[ASN][1000 genomes]
rs56268613	0.81[ASN][1000 genomes]
rs56360533	0.81[ASN][1000 genomes]
rs56367621	0.81[ASN][1000 genomes]
rs59841381	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59964227	0.93[ASN][1000 genomes]
rs59977060	0.83[ASN][1000 genomes]
rs60548145	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60969663	0.84[ASN][1000 genomes]
rs61385453	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123184	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123185	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123201	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123213	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123220	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123227	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62123229	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123230	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123239	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123244	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123245	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123246	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62123247	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62124024	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62124028	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124029	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124030	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62124032	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62125464	0.81[ASN][1000 genomes]
rs62125465	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73927842	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1063954	chr19:21000562-21177577	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1055484	chr19:21141787-21158134	Weak transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv515577	chr19:21152367-21164399	Enhancers Weak transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16997443	ZNF85	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21152400-21155000	Enhancers	Pancreas	Pancrea

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