Variant report

Variant	rs522604
Chromosome Location	chr11:85299165-85299166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1046216	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10501595	0.82[YRI][hapmap]
rs11234359	0.80[CHB][hapmap]
rs11600919	0.91[ASN][1000 genomes]
rs11603256	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11606688	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11821005	0.88[ASN][1000 genomes]
rs1192	0.86[YRI][hapmap]
rs1214001	0.93[YRI][hapmap]
rs1237203	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs12419172	0.93[YRI][hapmap]
rs1354397	0.84[CHB][hapmap]
rs2081445	0.82[ASN][1000 genomes]
rs2117312	0.83[ASN][1000 genomes]
rs2196168	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs286515	0.80[CHB][hapmap]
rs290171	0.81[CHB][hapmap]
rs290173	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs290179	0.81[CHB][hapmap]
rs290180	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs290181	0.83[ASN][1000 genomes]
rs290182	0.82[YRI][hapmap]
rs290183	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs290184	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs290185	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs290190	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs290195	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs290200	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs290202	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs370385	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3753050	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3781815	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3817087	0.93[ASN][1000 genomes]
rs3824956	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3862782	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4015271	0.84[ASN][1000 genomes]
rs4301809	0.91[ASN][1000 genomes]
rs431606	0.85[CHB][hapmap]
rs491867	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4943922	0.83[ASN][1000 genomes]
rs4944526	0.88[ASN][1000 genomes]
rs4944530	0.93[ASN][1000 genomes]
rs496187	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs540063	0.85[JPT][hapmap]
rs550404	0.90[JPT][hapmap]
rs552013	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs556669	0.90[JPT][hapmap]
rs55841425	0.82[ASN][1000 genomes]
rs57245119	0.81[ASN][1000 genomes]
rs57296431	0.96[ASN][1000 genomes]
rs575050	0.81[CHB][hapmap]
rs57549298	0.93[ASN][1000 genomes]
rs580459	0.90[JPT][hapmap]
rs589327	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs592460	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597480	0.90[JPT][hapmap]
rs61114547	0.91[ASN][1000 genomes]
rs61567739	0.85[ASN][1000 genomes]
rs631410	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs641393	0.90[JPT][hapmap]
rs647912	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs679204	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs680498	0.90[JPT][hapmap]
rs7107788	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7113528	0.90[ASN][1000 genomes]
rs7116195	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7122887	0.89[ASN][1000 genomes]
rs7925739	0.95[ASN][1000 genomes]
rs7940714	0.86[ASN][1000 genomes]
rs881120	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs947863	0.93[YRI][hapmap]
rs956202	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv898046	chr11:85180409-85300458	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
rs522604	SYTL2	cis	Muscle Skeletal	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85292400-85300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85292400-85300000	Weak transcription	Aorta	Aorta
3	chr11:85294400-85300000	Weak transcription	Ovary	ovary
4	chr11:85299000-85300400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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