Variant report

Variant	rs11635836
Chromosome Location	chr15:45299916-45299917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr15:45299806-45300904	U2OS	brain:	n/a	n/a
2	YY1	chr15:45299881-45300197	H1-hESC	embryonic stem cell:	n/a	chr15:45300082-45300094

Variant related genes	Relation type
RNU1-78P	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11070436	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs11070439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11632215	0.81[EUR][1000 genomes]
rs11636558	1.00[CEU][hapmap]
rs11636774	0.86[MKK][hapmap]
rs11637679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs12441189	1.00[CEU][hapmap]
rs12902552	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12903068	0.83[ASN][1000 genomes]
rs12913288	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap]
rs12916850	0.82[ASN][1000 genomes]
rs13380326	1.00[CEU][hapmap]
rs16976876	0.82[ASN][1000 genomes]
rs1704792	0.82[CEU][hapmap]
rs1720689	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs199334	0.91[EUR][1000 genomes]
rs2036831	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap]
rs2055858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217932	0.87[ASN][1000 genomes]
rs2470686	1.00[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap]
rs270822	0.86[EUR][1000 genomes]
rs34428536	0.94[ASN][1000 genomes]
rs35881035	0.96[ASN][1000 genomes]
rs3759890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3858900	0.94[ASN][1000 genomes]
rs452762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.92[TSI][hapmap]
rs58751943	0.80[ASN][1000 genomes]
rs6493131	1.00[CEU][hapmap]
rs67352586	0.84[ASN][1000 genomes]
rs71405285	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71478352	0.96[ASN][1000 genomes]
rs7169807	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72722052	0.95[ASN][1000 genomes]
rs8182070	0.82[ASN][1000 genomes]
rs925350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs963002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1040940	chr15:45105374-45300844	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv904184	chr15:45248787-45314764	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11635836	SORD	cis	Skin Sun Exposed Lower leg	GTEx
rs11635836	CTD-2008A1.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11635836	RP11-109D20.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45297200-45300400	Weak transcription	Liver	Liver
2	chr15:45297400-45300400	Weak transcription	HepG2	liver

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