Variant report

Variant	rs7821462
Chromosome Location	chr8:113681508-113681509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10105569	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111722	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1030296	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955631	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997584	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13281821	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373545	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56861329	0.86[AMR][1000 genomes]
rs59155160	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6469428	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6469433	0.86[AMR][1000 genomes]
rs6985219	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6992564	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6992961	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7001722	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003170	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7003350	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7011082	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7813569	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839990	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a
7	nsv891325	chr8:113655596-113681944	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113678000-113682400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113678400-113682200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:113679800-113683200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:113681000-113682200	Weak transcription	NHEK	skin
5	chr8:113681000-113682400	Weak transcription	HMEC	breast
6	chr8:113681000-113684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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