Variant report

Variant	rs487288
Chromosome Location	chr11:71996827-71996828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71996280..71998537-chr11:72005690..72008069,2	K562	blood:
2	chr11:71952938..71955686-chr11:71995660..71998147,2	K562	blood:

Variant related genes	Relation type
ENSG00000165462	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11548491	0.83[ASN][1000 genomes]
rs12416741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12418533	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12418637	0.83[YRI][hapmap]
rs1783632	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276046	0.83[ASN][1000 genomes]
rs2508199	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2508201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2508204	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508861	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2508866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049191	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3900852	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs472837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477354	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs506041	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527905	0.93[CHB][hapmap]
rs55723921	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229279	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333926	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57276029	0.93[ASN][1000 genomes]
rs57291879	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57464210	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57614093	0.94[ASN][1000 genomes]
rs57669200	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58306819	0.93[ASN][1000 genomes]
rs58489620	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58753751	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs590732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59427981	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59509230	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59612321	0.94[ASN][1000 genomes]
rs59980097	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60024067	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60849224	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61563240	0.93[ASN][1000 genomes]
rs61736312	0.81[ASN][1000 genomes]
rs650834	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7108974	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110260	1.00[CHB][hapmap]
rs7116854	0.94[ASN][1000 genomes]
rs7130652	0.94[ASN][1000 genomes]
rs73528886	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73528892	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73528897	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7952074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9886	0.94[CHB][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71993800-72004800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:71994000-72004200	Weak transcription	HSMMtube	muscle
3	chr11:71994000-72004600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:71995400-72003200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:71996200-72003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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