Variant report

Variant	rs17721133
Chromosome Location	chr5:58369428-58369429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10065303	0.86[CEU][hapmap]
rs10065699	0.81[CEU][hapmap]
rs10452450	0.90[CEU][hapmap];0.81[AMR][1000 genomes]
rs10514871	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12109774	0.95[CEU][hapmap]
rs16889167	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs17720311	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17720871	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721564	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs17721878	1.00[YRI][hapmap]
rs17776825	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17777280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17777617	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801062	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56057207	0.82[AFR][1000 genomes]
rs56407743	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356680	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356683	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356684	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356686	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62356687	0.82[AMR][1000 genomes]
rs62356690	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62356691	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62356692	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6898082	0.81[CEU][hapmap]
rs950446	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58360600-58373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:58365400-58375200	Weak transcription	Hela-S3	cervix
4	chr5:58366000-58375600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:58366000-58375800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:58366600-58371000	Genic enhancers	A549	lung
7	chr5:58367200-58369600	Enhancers	HepG2	liver
8	chr5:58369200-58375800	Weak transcription	Placenta Amnion	Placenta Amnion

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