Variant report

Variant	rs11588448
Chromosome Location	chr1:45560962-45560963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45552821..45555517-chr1:45559008..45561806,2	MCF-7	breast:
2	chr1:45549284..45552082-chr1:45559378..45561289,2	K562	blood:
3	chr1:45285200..45288152-chr1:45559027..45562009,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11211075	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211077	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211080	0.97[EUR][1000 genomes]
rs1143726	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1143727	1.00[EUR][1000 genomes]
rs1144866	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144867	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1144870	1.00[EUR][1000 genomes]
rs1144871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1152017	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1152018	0.80[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152020	1.00[EUR][1000 genomes]
rs1152022	1.00[EUR][1000 genomes]
rs11585488	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1226722	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226723	0.92[CEU][hapmap];1.00[EUR][1000 genomes]
rs1226727	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226728	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226736	0.94[EUR][1000 genomes]
rs1226740	0.94[EUR][1000 genomes]
rs1226749	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1226912	0.94[EUR][1000 genomes]
rs12750360	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1698295	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1938302	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1938406	0.94[EUR][1000 genomes]
rs2211644	0.92[EUR][1000 genomes]
rs2356304	0.91[EUR][1000 genomes]
rs2883902	0.94[EUR][1000 genomes]
rs2997400	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2997462	0.92[EUR][1000 genomes]
rs3009973	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3009976	0.94[EUR][1000 genomes]
rs3009978	0.94[EUR][1000 genomes]
rs3121731	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3121770	0.92[EUR][1000 genomes]
rs3128437	0.92[EUR][1000 genomes]
rs3128443	0.92[EUR][1000 genomes]
rs6429558	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698681	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6700502	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6702389	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68139854	1.00[EUR][1000 genomes]
rs7517524	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7528468	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7548075	1.00[EUR][1000 genomes]
rs7552211	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	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
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	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
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45543800-45562200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:45550800-45562200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:45558600-45564200	Enhancers	HepG2	liver

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