Variant report

Variant	rs7115250
Chromosome Location	chr11:85316744-85316745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1046216	0.96[YRI][hapmap]
rs10501595	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234359	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11603256	0.90[YRI][hapmap]
rs11603984	0.83[ASN][1000 genomes]
rs11604028	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11605203	0.82[ASN][1000 genomes]
rs11607685	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11820071	0.88[ASN][1000 genomes]
rs1192	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs1214001	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1237203	0.86[YRI][hapmap]
rs12417341	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419172	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1354397	0.89[CHB][hapmap]
rs1425223	0.82[ASN][1000 genomes]
rs1504027	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1504029	0.81[ASN][1000 genomes]
rs158217	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17148254	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17148293	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17148306	0.93[ASN][1000 genomes]
rs17208492	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17208519	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17810659	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806414	0.89[EUR][1000 genomes]
rs184057	0.89[EUR][1000 genomes]
rs185932	0.89[EUR][1000 genomes]
rs1863256	0.80[ASN][1000 genomes]
rs188311	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1892872	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1954757	0.89[EUR][1000 genomes]
rs1991923	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs207060	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2162055	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196168	0.96[YRI][hapmap]
rs2290823	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2467059	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2512800	0.89[EUR][1000 genomes]
rs286494	0.89[EUR][1000 genomes]
rs286499	0.84[CHB][hapmap]
rs286509	0.89[EUR][1000 genomes]
rs286512	0.89[EUR][1000 genomes]
rs286513	0.85[CHB][hapmap]
rs286515	0.89[CHB][hapmap]
rs286521	0.89[EUR][1000 genomes]
rs286522	0.89[EUR][1000 genomes]
rs286523	0.85[EUR][1000 genomes]
rs286524	0.89[EUR][1000 genomes]
rs286525	0.89[EUR][1000 genomes]
rs286529	0.82[AMR][1000 genomes]
rs286530	0.86[EUR][1000 genomes]
rs286531	0.89[EUR][1000 genomes]
rs286534	0.89[EUR][1000 genomes]
rs286537	0.89[EUR][1000 genomes]
rs286538	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs286539	0.89[EUR][1000 genomes]
rs286540	0.89[EUR][1000 genomes]
rs286541	0.88[EUR][1000 genomes]
rs290175	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs290177	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs290178	0.87[ASN][1000 genomes]
rs290182	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs290184	0.96[YRI][hapmap]
rs290185	0.89[YRI][hapmap]
rs290186	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs290194	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs290196	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs290199	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs35097455	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35844123	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs370385	0.87[YRI][hapmap]
rs3753050	0.96[YRI][hapmap]
rs3781815	0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs3817087	0.82[AFR][1000 genomes]
rs3824956	0.96[YRI][hapmap]
rs3862782	0.96[YRI][hapmap]
rs4015271	0.81[AMR][1000 genomes]
rs4280023	0.89[ASN][1000 genomes]
rs4943918	0.89[CHB][hapmap]
rs4943925	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944520	0.80[ASN][1000 genomes]
rs4944522	0.82[ASN][1000 genomes]
rs4944526	0.92[AFR][1000 genomes]
rs4944527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944529	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944531	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4944532	0.95[ASN][1000 genomes]
rs497698	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs510948	0.88[JPT][hapmap]
rs537266	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs537604	0.88[JPT][hapmap]
rs552013	0.86[AFR][1000 genomes]
rs55739259	0.89[ASN][1000 genomes]
rs55933855	0.82[ASN][1000 genomes]
rs56073783	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56238215	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56256400	0.82[ASN][1000 genomes]
rs56273824	0.83[ASN][1000 genomes]
rs56321405	0.83[ASN][1000 genomes]
rs56579	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs56737296	0.89[ASN][1000 genomes]
rs57223077	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57296431	0.87[AFR][1000 genomes]
rs573766	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs578324	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs58152312	0.97[ASN][1000 genomes]
rs583122	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs58931064	0.97[ASN][1000 genomes]
rs59082411	0.81[ASN][1000 genomes]
rs592460	0.85[AFR][1000 genomes]
rs592712	0.88[JPT][hapmap]
rs60484561	0.83[ASN][1000 genomes]
rs60838923	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609012	0.88[JPT][hapmap]
rs61133973	0.86[ASN][1000 genomes]
rs61286868	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs613973	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs62388	0.89[EUR][1000 genomes]
rs631375	0.84[AFR][1000 genomes]
rs639688	0.81[JPT][hapmap]
rs650036	0.94[JPT][hapmap]
rs653559	0.94[JPT][hapmap]
rs6592252	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592253	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs681044	0.89[JPT][hapmap]
rs688741	0.94[JPT][hapmap]
rs7107788	0.96[YRI][hapmap]
rs7108132	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108137	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7110363	0.85[CHB][hapmap]
rs7113528	0.86[AFR][1000 genomes]
rs7116195	0.96[YRI][hapmap]
rs7119617	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs73499156	0.83[ASN][1000 genomes]
rs73499163	0.83[ASN][1000 genomes]
rs7939217	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7943586	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948778	0.90[CHB][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs881120	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs881121	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947861	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs947862	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs947863	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956202	0.84[YRI][hapmap]

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
rs7115250	SYTL2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85316000-85318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:85316200-85319800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:85316400-85319200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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