Variant report

Variant	rs552013
Chromosome Location	chr11:85316108-85316109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1046216	0.94[ASN][1000 genomes]
rs11600919	0.94[ASN][1000 genomes]
rs11603256	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11606688	0.94[ASN][1000 genomes]
rs11821005	0.90[ASN][1000 genomes]
rs1237203	0.85[ASN][1000 genomes]
rs1847433	0.82[ASN][1000 genomes]
rs2081445	0.84[ASN][1000 genomes]
rs2117312	0.86[ASN][1000 genomes]
rs2162055	0.81[AFR][1000 genomes]
rs2196168	0.88[ASN][1000 genomes]
rs290180	0.85[ASN][1000 genomes]
rs290181	0.86[ASN][1000 genomes]
rs290183	0.92[ASN][1000 genomes]
rs290184	0.94[ASN][1000 genomes]
rs290185	0.86[ASN][1000 genomes]
rs370385	0.87[ASN][1000 genomes]
rs3753050	0.96[ASN][1000 genomes]
rs3781815	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3817087	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3824956	0.95[ASN][1000 genomes]
rs3862782	0.94[ASN][1000 genomes]
rs4015271	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4301809	0.88[ASN][1000 genomes]
rs431606	0.83[ASN][1000 genomes]
rs4943922	0.81[ASN][1000 genomes]
rs4944523	0.82[ASN][1000 genomes]
rs4944526	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4944530	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs497698	0.90[AFR][1000 genomes]
rs522604	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55841425	0.84[ASN][1000 genomes]
rs57296431	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57549298	0.94[ASN][1000 genomes]
rs592460	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61114547	0.91[ASN][1000 genomes]
rs61342895	0.80[ASN][1000 genomes]
rs61567739	0.86[ASN][1000 genomes]
rs631375	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7107788	0.95[ASN][1000 genomes]
rs7113528	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7115250	0.86[AFR][1000 genomes]
rs7116195	0.92[ASN][1000 genomes]
rs7122887	0.89[ASN][1000 genomes]
rs7925739	0.96[ASN][1000 genomes]
rs7940714	0.86[ASN][1000 genomes]
rs7949567	0.82[ASN][1000 genomes]
rs881120	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956202	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs552013	SYTL2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85315200-85316200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:85315400-85316400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:85316000-85318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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