Variant report

Variant	rs4506195
Chromosome Location	chr8:125407101-125407102
allele	A/C
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:23)

rs_ID	r²[population]
rs10110968	0.84[EUR][1000 genomes]
rs10464864	0.83[GIH][hapmap]
rs12674575	1.00[GIH][hapmap]
rs12674701	0.83[EUR][1000 genomes]
rs4257990	0.84[EUR][1000 genomes]
rs4314633	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4317549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4527851	0.93[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4581036	0.85[EUR][1000 genomes]
rs4590425	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4639495	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4871489	0.93[CEU][hapmap]
rs6470241	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6984232	0.84[EUR][1000 genomes]
rs6985308	1.00[GIH][hapmap];0.86[EUR][1000 genomes]
rs6993858	0.86[EUR][1000 genomes]
rs7002456	1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs7010910	0.84[EUR][1000 genomes]
rs7386298	0.86[EUR][1000 genomes]
rs7387520	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7819902	0.84[EUR][1000 genomes]
rs7835851	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7841552	0.85[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers 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 miRNA target site	84 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	chr8:125406400-125407200	Flanking Active TSS	Fetal Heart	heart
2	chr8:125406600-125407400	Enhancers	Right Ventricle	heart
3	chr8:125406600-125408400	Enhancers	Left Ventricle	heart
4	chr8:125407000-125407600	Weak transcription	Psoas Muscle	Psoas
5	chr8:125407000-125408200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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