Variant report

Variant	rs72751313
Chromosome Location	chr5:57085460-57085461
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57066092..57067636-chr5:57085152..57087755,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447121	0.90[EUR][1000 genomes]
rs10940578	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12186536	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12515493	0.90[EUR][1000 genomes]
rs12515736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12517238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12517867	0.90[EUR][1000 genomes]
rs12522697	0.88[EUR][1000 genomes]
rs1432482	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544621	0.90[EUR][1000 genomes]
rs17690351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17690411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17746879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17746968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2160058	0.90[EUR][1000 genomes]
rs2192367	0.88[EUR][1000 genomes]
rs56830694	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57200729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610852	0.89[EUR][1000 genomes]
rs58632739	0.90[EUR][1000 genomes]
rs6450432	0.90[EUR][1000 genomes]
rs6450433	0.90[EUR][1000 genomes]
rs6450434	0.90[EUR][1000 genomes]
rs6450435	0.90[EUR][1000 genomes]
rs6450437	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6870485	0.88[EUR][1000 genomes]
rs6878042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891648	0.90[EUR][1000 genomes]
rs6894375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751323	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72767441	0.89[EUR][1000 genomes]
rs72767444	0.90[EUR][1000 genomes]
rs741181	0.89[EUR][1000 genomes]
rs7718447	0.90[EUR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	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
3	nsv830310	chr5:56989346-57176006	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	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3368708	chr5:57081495-57086493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57082800-57087600	Weak transcription	Placenta	Placenta

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