Variant report

Variant	rs72788518
Chromosome Location	chr5:106350891-106350892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11738346	0.97[ASN][1000 genomes]
rs11740167	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740696	0.86[AMR][1000 genomes]
rs11742639	0.85[AMR][1000 genomes]
rs11749947	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13188135	0.93[ASN][1000 genomes]
rs35708718	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245987	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4440344	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4957680	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55853362	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56997890	0.99[ASN][1000 genomes]
rs57223507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59531819	0.91[AMR][1000 genomes]
rs72784362	0.88[AMR][1000 genomes]
rs72784364	0.88[AMR][1000 genomes]
rs72784366	0.85[AMR][1000 genomes]
rs72784368	0.88[AMR][1000 genomes]
rs72784370	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72784373	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72784375	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72784386	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72788517	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72788523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72788534	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72788539	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016354	chr5:105752391-106392762	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv830439	chr5:106192038-106383828	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882679	chr5:106263197-106399718	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1797744	chr5:106328326-106358541	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106350200-106351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:106350200-106353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:106350200-106353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:106350400-106353400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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