Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93273580..93276539-chr11:93292460..93295434,2	K562	blood:

Variant related genes	Relation type
ENSG00000166002	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11020415	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12223863	0.88[JPT][hapmap]
rs12791296	0.93[EUR][1000 genomes]
rs2399679	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399680	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2399681	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2399682	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2399683	0.96[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2399684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2399685	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2895470	0.84[JPT][hapmap]
rs2895473	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753086	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4753475	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4753476	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4753477	0.91[EUR][1000 genomes]
rs60944979	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7118364	0.82[AMR][1000 genomes]
rs7128507	0.80[CHD][hapmap];0.84[JPT][hapmap]
rs7939767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11020416	PIWIL4	cis	parietal	SCAN
rs11020416	MED17	cis	parietal	SCAN
rs11020416	C11orf54	cis	cerebellum	SCAN
rs11020416	C11orf75	cis	lymphoblastoid	seeQTL
rs11020416	C11orf75	cis	multi-tissue	Pritchard
rs11020416	C11orf54	cis	parietal	SCAN
rs11020416	SCARNA9	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93292800-93294000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr11:93293000-93294000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:93293000-93294000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:93293200-93293800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:93293200-93293800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:93293400-93294000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:93293600-93294000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:93293600-93294000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:93293600-93294200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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