Variant report

Variant	rs17370550
Chromosome Location	chr5:112271998-112271999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs13185006	0.89[AMR][1000 genomes]
rs17135067	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17135193	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17290064	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17310536	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311019	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311096	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17359859	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17369211	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17371015	1.00[EUR][1000 genomes]
rs1833560	0.93[EUR][1000 genomes]
rs4235776	0.89[AMR][1000 genomes]
rs4235780	0.89[AMR][1000 genomes]
rs4235781	0.89[AMR][1000 genomes]
rs4235782	0.89[AMR][1000 genomes]
rs4235783	0.89[AMR][1000 genomes]
rs4235784	0.89[AMR][1000 genomes]
rs4235785	0.89[AMR][1000 genomes]
rs4260661	0.89[AMR][1000 genomes]
rs4295378	0.89[AMR][1000 genomes]
rs4519915	0.89[AMR][1000 genomes]
rs4705534	0.89[AMR][1000 genomes]
rs4705757	0.89[AMR][1000 genomes]
rs4705759	0.89[AMR][1000 genomes]
rs4705760	0.89[AMR][1000 genomes]
rs4705761	0.89[AMR][1000 genomes]
rs4705764	0.89[AMR][1000 genomes]
rs55684649	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771309	0.87[EUR][1000 genomes]
rs55771959	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55798475	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55901036	0.89[AMR][1000 genomes]
rs55940904	0.89[AMR][1000 genomes]
rs56023848	0.89[AMR][1000 genomes]
rs56155803	0.87[EUR][1000 genomes]
rs56194248	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56265422	0.89[AMR][1000 genomes]
rs56320268	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56321569	1.00[EUR][1000 genomes]
rs56328836	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs6594657	0.89[AMR][1000 genomes]
rs6594658	0.89[AMR][1000 genomes]
rs6594666	0.89[AMR][1000 genomes]
rs6594667	0.89[AMR][1000 genomes]
rs6594668	0.89[AMR][1000 genomes]
rs6862944	0.89[AMR][1000 genomes]
rs6864647	0.82[EUR][1000 genomes]
rs6872473	0.89[AMR][1000 genomes]
rs6881233	0.89[AMR][1000 genomes]
rs6881477	0.89[AMR][1000 genomes]
rs6882115	0.89[AMR][1000 genomes]
rs6897972	0.89[AMR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7706745	0.89[AMR][1000 genomes]
rs7728495	0.89[AMR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.93[EUR][1000 genomes]
rs878074	0.89[AMR][1000 genomes]
rs878075	0.89[AMR][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112271000-112272000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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