Variant report

Variant	rs2248272
Chromosome Location	chr6:69324746-69324747
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	chr6:69287462..69289135-chr6:69323588..69325496,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10806605	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10945134	0.81[CEU][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10945135	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12194992	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12196021	0.91[JPT][hapmap]
rs1523931	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1523932	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2024561	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2254150	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2256337	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341765	0.82[ASN][1000 genomes]
rs2585593	0.84[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2585594	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2585605	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585618	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2585619	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585620	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746126	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2802690	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2802699	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2802702	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802703	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802704	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802705	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802706	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2802710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4554295	0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4607402	0.91[JPT][hapmap]
rs478070	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs530888	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs639338	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6908159	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9342729	0.82[JPT][hapmap]
rs9342730	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9342731	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9346233	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9346234	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9346237	0.91[JPT][hapmap]
rs9346238	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9351734	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9351735	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs9363962	0.82[JPT][hapmap]

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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830680	chr6:69192214-69351103	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv970727	chr6:69319985-69327051	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69323200-69326000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:69324600-69325000	Weak transcription	Monocytes-CD14+_RO01746	blood

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