Variant report

Variant	rs4440618
Chromosome Location	chr8:125418855-125418856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10090701	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10090794	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10098613	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10098627	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103889	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103942	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103986	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10104258	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10111274	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111526	0.89[CHD][hapmap]
rs10111582	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10111705	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10113274	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956179	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956180	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11991060	0.82[AMR][1000 genomes]
rs11993256	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993622	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13253772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13277120	0.85[AMR][1000 genomes]
rs28709760	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4335114	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4376484	0.85[AMR][1000 genomes]
rs4413757	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4427153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4457313	0.82[AMR][1000 genomes]
rs60878192	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993890	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9642871	0.83[ASN][1000 genomes]
rs9643194	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643195	0.83[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4440618	DERL1	cis	parietal	SCAN
rs4440618	TMEM65	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125415800-125420200	Weak transcription	Fetal Heart	heart
2	chr8:125416000-125419200	Weak transcription	Fetal Intestine Small	intestine
3	chr8:125418800-125419000	Enhancers	Fetal Intestine Large	intestine

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