Variant report

Variant	rs73270239
Chromosome Location	chr5:120716085-120716086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10078239	0.98[EUR][1000 genomes]
rs11948148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948196	0.90[ASN][1000 genomes]
rs11948267	0.90[ASN][1000 genomes]
rs11948268	0.90[ASN][1000 genomes]
rs11948822	0.90[ASN][1000 genomes]
rs11951581	0.90[ASN][1000 genomes]
rs11954625	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11954691	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955812	0.90[ASN][1000 genomes]
rs11956004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956529	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11956670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17457980	0.98[EUR][1000 genomes]
rs17458039	0.98[EUR][1000 genomes]
rs17458136	0.98[EUR][1000 genomes]
rs17458226	0.98[EUR][1000 genomes]
rs17458310	0.98[EUR][1000 genomes]
rs17458337	0.98[EUR][1000 genomes]
rs17517621	0.98[EUR][1000 genomes]
rs17517691	0.98[EUR][1000 genomes]
rs35631466	0.90[ASN][1000 genomes]
rs59768572	0.87[AFR][1000 genomes]
rs61231237	0.87[AFR][1000 genomes]
rs73270223	0.94[AFR][1000 genomes]
rs73270233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270237	0.82[AFR][1000 genomes]
rs73270242	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270244	0.90[AFR][1000 genomes]
rs73270246	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270248	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277927	0.87[AFR][1000 genomes]
rs73277931	0.87[AFR][1000 genomes]
rs73283841	0.87[AFR][1000 genomes]
rs73283852	0.87[AFR][1000 genomes]
rs73283858	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73283887	0.81[AFR][1000 genomes]
rs73285486	0.90[ASN][1000 genomes]
rs73285488	0.90[ASN][1000 genomes]
rs7704634	0.90[ASN][1000 genomes]
rs7705198	0.90[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	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882797	chr5:120359319-120757262	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv33642	chr5:120380525-120848760	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2754268	chr5:120398198-120745053	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1033162	chr5:120685951-120736122	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1023679	chr5:120689805-120890257	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	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	chr5:120715000-120720400	Weak transcription	Dnd41	blood
2	chr5:120715800-120716200	Enhancers	HUVEC	blood vessel

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