Variant report

Variant	rs59681478
Chromosome Location	chr8:113350786-113350787
allele	C/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	ARID3A	chr8:113350397-113350810	HepG2	liver:	n/a	chr8:113350726-113350742

Variant related genes	Relation type
CSMD3	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984540	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4452816	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55898902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57150366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57215236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57429229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58804086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59864641	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700642	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700663	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113350000-113355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:113350000-113378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113350200-113351200	Weak transcription	Fetal Intestine Small	intestine

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