Variant report

Variant	rs7164167
Chromosome Location	chr15:75618535-75618536
allele	A/T
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	chr15:75618330-75618609	K562	blood:	n/a	chr15:75618477-75618488
2	CEBPB	chr15:75618338-75618538	H1-hESC	embryonic stem cell:	n/a	chr15:75618477-75618488
3	POU2F2	chr15:75618513-75619217	GM12878	blood:	n/a	n/a
4	CEBPB	chr15:75618345-75618577	A549	lung:	n/a	chr15:75618477-75618488
5	CEBPB	chr15:75618316-75618582	IMR90	lung:	n/a	chr15:75618477-75618488
6	PAX5	chr15:75618492-75618982	GM12878	blood:	n/a	n/a
7	IRF4	chr15:75618485-75619053	GM12878	blood:	n/a	n/a
8	CEBPB	chr15:75618326-75618572	HepG2	liver:	n/a	chr15:75618477-75618488
9	CEBPB	chr15:75618344-75618544	Hela-S3	cervix:	n/a	chr15:75618477-75618488
10	CEBPB	chr15:75618333-75618612	K562	blood:	n/a	chr15:75618477-75618488

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75614033..75615886-chr15:75617581..75620127,2	K562	blood:

Variant related genes	Relation type
ANP32BP1	TF binding region
ENSG00000259790	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11634109	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1809714	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1984586	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1984587	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3866545	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4310817	0.94[EUR][1000 genomes]
rs4886684	0.91[EUR][1000 genomes]
rs55653892	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56164452	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59084522	0.95[EUR][1000 genomes]
rs7164429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164976	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7166436	0.91[EUR][1000 genomes]
rs7166852	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7167401	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7183520	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73435015	0.95[EUR][1000 genomes]
rs73435089	0.94[EUR][1000 genomes]
rs73436803	0.98[EUR][1000 genomes]
rs8031650	0.93[EUR][1000 genomes]
rs9673084	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7164167	MAN2C1	cis	Esophagus Muscularis	GTEx
rs7164167	MAN2C1	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75618000-75628000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:75618200-75618800	Enhancers	HepG2	liver
3	chr15:75618200-75619600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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