Variant report

Variant	rs11241170
Chromosome Location	chr5:111872699-111872700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111871115..111873160-chr5:111927827..111929771,2	K562	blood:
2	chr5:111868244..111870833-chr5:111871300..111873976,3	K562	blood:
3	chr5:111868244..111870833-chr5:111871300..111873976,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10038874	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10050436	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10055787	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10055908	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10056032	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10060366	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10060474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10062535	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10062917	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10063938	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10064939	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10065523	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10065629	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10070796	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10074435	0.94[EUR][1000 genomes]
rs10463637	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10463640	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10515442	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs11241168	0.83[ASN][1000 genomes]
rs11241169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241172	0.88[EUR][1000 genomes]
rs11241173	0.94[EUR][1000 genomes]
rs11948701	0.80[ASN][1000 genomes]
rs11952093	0.92[EUR][1000 genomes]
rs11955149	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11955894	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs13357891	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1530508	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1530509	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1530510	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2121162	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2121163	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2121164	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2416291	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28671308	0.94[EUR][1000 genomes]
rs28703859	0.93[EUR][1000 genomes]
rs338859	0.83[EUR][1000 genomes]
rs338870	0.85[EUR][1000 genomes]
rs3934640	0.94[EUR][1000 genomes]
rs4958049	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4958050	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55655201	0.94[EUR][1000 genomes]
rs55813767	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56034571	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67793660	0.94[EUR][1000 genomes]
rs72789924	0.83[ASN][1000 genomes]
rs72793937	0.91[EUR][1000 genomes]
rs7378714	0.88[EUR][1000 genomes]
rs9790874	0.94[EUR][1000 genomes]
rs9885457	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11241170	EPB41L4A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111869600-111880000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:111870000-111874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:111870000-111874800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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