Variant report

Variant	rs72750898
Chromosome Location	chr5:42300702-42300703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10059747	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078935	0.96[EUR][1000 genomes]
rs10472369	0.96[EUR][1000 genomes]
rs11738203	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11743641	0.81[EUR][1000 genomes]
rs11744988	0.83[EUR][1000 genomes]
rs11745718	0.86[EUR][1000 genomes]
rs11748224	0.85[EUR][1000 genomes]
rs11748684	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28463913	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56395635	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56937761	0.90[EUR][1000 genomes]
rs57190315	0.87[EUR][1000 genomes]
rs57417495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58363453	0.83[EUR][1000 genomes]
rs59193921	0.91[EUR][1000 genomes]
rs66484535	0.81[EUR][1000 genomes]
rs66487711	0.90[EUR][1000 genomes]
rs66756362	0.90[EUR][1000 genomes]
rs67526935	0.85[EUR][1000 genomes]
rs67529954	0.90[EUR][1000 genomes]
rs67600650	0.90[EUR][1000 genomes]
rs6887313	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750886	0.98[EUR][1000 genomes]
rs72750888	0.98[EUR][1000 genomes]
rs72750901	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753015	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7710353	0.85[EUR][1000 genomes]
rs7714376	0.96[EUR][1000 genomes]
rs7720893	0.85[EUR][1000 genomes]
rs7727915	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42300600-42303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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