Variant report

Variant	rs7816741
Chromosome Location	chr8:125231643-125231644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11985624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986399	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988179	1.00[EUR][1000 genomes]
rs11993616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899395	1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55665685	1.00[EUR][1000 genomes]
rs55983716	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56187466	1.00[EUR][1000 genomes]
rs56245137	1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	1.00[EUR][1000 genomes]
rs59692764	1.00[EUR][1000 genomes]
rs60849706	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61668924	1.00[EUR][1000 genomes]
rs6470232	1.00[EUR][1000 genomes]
rs6470234	1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	1.00[EUR][1000 genomes]
rs73703980	1.00[EUR][1000 genomes]
rs73703982	1.00[EUR][1000 genomes]
rs73703992	1.00[EUR][1000 genomes]
rs73703993	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703996	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703997	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703998	0.83[AMR][1000 genomes]
rs73703999	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704000	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125216400-125240200	Weak transcription	Left Ventricle	heart
2	chr8:125223600-125232800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:125228000-125233000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125228200-125232800	Weak transcription	NHDF-Ad	bronchial
5	chr8:125230200-125240200	Weak transcription	Spleen	Spleen
6	chr8:125231400-125234600	Weak transcription	Fetal Lung	lung
7	chr8:125231600-125231800	Enhancers	K562	blood
8	chr8:125231600-125233200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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