Variant report

Variant	rs6998593
Chromosome Location	chr8:125427742-125427743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10086126	0.81[AMR][1000 genomes]
rs10090701	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10090794	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10091131	0.90[AFR][1000 genomes]
rs10098613	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10098627	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10103889	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10103942	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10103986	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10104258	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111274	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10111582	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10111705	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10113274	0.84[AFR][1000 genomes]
rs10113293	0.84[AFR][1000 genomes]
rs10956179	0.96[CEU][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956180	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956182	0.89[EUR][1000 genomes]
rs11993256	0.81[AFR][1000 genomes]
rs11993622	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12543081	0.87[EUR][1000 genomes]
rs12676421	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676459	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12680559	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680583	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12681117	0.83[EUR][1000 genomes]
rs13253772	0.84[AFR][1000 genomes]
rs13269278	0.84[AFR][1000 genomes]
rs28709760	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28773576	0.90[ASN][1000 genomes]
rs4346978	0.91[AFR][1000 genomes]
rs4425736	0.89[AFR][1000 genomes]
rs4427153	0.83[AFR][1000 genomes]
rs4487744	0.83[AFR][1000 genomes]
rs4567018	0.80[AFR][1000 genomes]
rs60878192	0.83[AFR][1000 genomes]
rs61565932	0.82[ASN][1000 genomes]
rs6993890	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6994603	0.96[CEU][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7388170	0.88[ASN][1000 genomes]
rs7388224	0.82[ASN][1000 genomes]
rs7460859	0.83[AFR][1000 genomes]
rs7839446	0.91[AFR][1000 genomes]
rs9642871	0.91[AMR][1000 genomes]
rs9642872	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643194	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9643195	0.86[AMR][1000 genomes];0.84[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6998593	DERL1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125425600-125428200	Enhancers	Fetal Heart	heart
2	chr8:125427200-125433800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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