Variant report

Variant	rs11211091
Chromosome Location	chr1:45757124-45757125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45756933..45758729-chr1:45768463..45770390,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11586623	0.85[EUR][1000 genomes]
rs1226749	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs12728796	1.00[ASN][1000 genomes]
rs1698295	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs1938298	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1938302	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs1938408	1.00[ASN][1000 genomes]
rs2096436	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2096437	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2211644	0.81[EUR][1000 genomes]
rs28402283	0.85[EUR][1000 genomes]
rs28664913	0.85[EUR][1000 genomes]
rs28704653	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2997462	0.81[EUR][1000 genomes]
rs3009973	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs3121731	0.81[EUR][1000 genomes]
rs3121768	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3121770	0.81[EUR][1000 genomes]
rs3121771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3128437	0.81[EUR][1000 genomes]
rs3128442	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3128443	0.81[EUR][1000 genomes]
rs61788380	1.00[ASN][1000 genomes]
rs6429564	0.88[ASW][hapmap];0.89[YRI][hapmap]
rs6688723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7548931	0.80[MKK][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	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
2	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
3	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv3406025	chr1:45739908-45763848	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11211091	SNORD55	cis	parietal	SCAN
rs11211091	SNORD55	cis	cerebellum	SCAN
rs11211091	ZNF691	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45756800-45757800	Enhancers	K562	blood
2	chr1:45756800-45758600	Enhancers	Fetal Intestine Large	intestine
3	chr1:45756800-45759000	Enhancers	Fetal Intestine Small	intestine
4	chr1:45756800-45759800	Enhancers	HepG2	liver

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