Variant report

Variant	rs73317879
Chromosome Location	chr5:145575084-145575085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145574849..145577179-chr5:145580631..145584076,3	K562	blood:
2	chr5:145573844..145576885-chr5:145577748..145580180,3	K562	blood:
3	chr5:145574849..145576766-chr5:145582539..145584532,3	K562	blood:
4	chr5:145560704..145564062-chr5:145572842..145575538,3	K562	blood:
5	chr5:145573844..145575489-chr5:145577748..145580152,2	K562	blood:
6	chr5:145562172..145563864-chr5:145572601..145575538,2	K562	blood:

Variant related genes	Relation type
ENSG00000091009	Chromatin interaction
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56013882	0.86[AFR][1000 genomes]
rs56393547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57605364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57650885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58281516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58508858	0.85[AFR][1000 genomes]
rs58640165	0.91[AFR][1000 genomes]
rs59545810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6580412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315779	0.85[AFR][1000 genomes]
rs73317823	0.92[AFR][1000 genomes]
rs73317824	0.92[AFR][1000 genomes]
rs73317840	0.96[AFR][1000 genomes]
rs73317848	0.96[AFR][1000 genomes]
rs73319927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793852	0.85[AFR][1000 genomes]
rs73793869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793896	0.81[AFR][1000 genomes];1.00[AMR][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 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	chr5:145563000-145582200	Weak transcription	Right Atrium	heart
2	chr5:145571000-145582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:145573200-145579000	Weak transcription	HepG2	liver

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