Variant report

Variant	rs200064
Chromosome Location	chr5:8677308-8677309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:8641727..8643790-chr5:8675458..8678330,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs169239	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs187964	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs199181	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199997	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs199998	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs199999	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs200000	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs200001	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs200002	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200003	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200005	0.83[AMR][1000 genomes]
rs200006	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200008	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs200009	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs200010	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs200011	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs200013	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs200014	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs200048	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200052	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs200068	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200095	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4701817	0.95[ASN][1000 genomes]
rs9763660	0.91[ASN][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	nsv1026496	chr5:8275119-8681693	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv537635	chr5:8275119-8681693	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	nsv880933	chr5:8467174-8688962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv470987	chr5:8467900-8680327	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1032346	chr5:8522331-8747061	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537636	chr5:8522331-8747061	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033498	chr5:8554438-8702228	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8676800-8677400	Enhancers	Fetal Lung	lung
2	chr5:8677000-8677400	Enhancers	Dnd41	blood

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