Variant report

Variant	rs9292847
Chromosome Location	chr5:42274926-42274927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42272928..42275449-chr5:42292455..42296582,3	K562	blood:
2	chr5:42272928..42275449-chr5:42293817..42296582,2	K562	blood:
3	chr5:42272147..42275776-chr5:42281474..42285473,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10038605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052897	1.00[YRI][hapmap]
rs10055579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10062415	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10065700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10075533	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214156	0.82[AFR][1000 genomes]
rs10473266	0.85[AMR][1000 genomes]
rs12332782	0.85[AMR][1000 genomes]
rs13355247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13356114	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13357631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28453248	0.85[AMR][1000 genomes]
rs28530765	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886079	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6886712	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080081	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73090140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090168	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7720817	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7724293	0.85[AMR][1000 genomes]
rs7732413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737752	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881000	chr5:42254097-42300305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:42274800-42275200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:42274800-42275200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:42274800-42275200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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