Variant report

Variant	rs11957799
Chromosome Location	chr5:127120736-127120737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10519960	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900792	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241939	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11241942	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11950864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652197	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12653785	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399829	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1421747	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515640	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173581	0.81[ASN][1000 genomes]
rs1849938	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs187461	0.80[ASN][1000 genomes]
rs1897525	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248716	0.81[EUR][1000 genomes]
rs248722	0.80[EUR][1000 genomes]
rs248724	0.81[EUR][1000 genomes]
rs248731	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs248733	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248740	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248742	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2569146	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569148	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2673772	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57883466	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59513079	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62373501	0.81[EUR][1000 genomes]
rs62373502	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595789	0.81[EUR][1000 genomes]
rs790827	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs812059	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127120000-127120800	Enhancers	HSMMtube	muscle
2	chr5:127120000-127121200	Enhancers	Fetal Muscle Leg	muscle
3	chr5:127120000-127121600	Enhancers	Fetal Heart	heart
4	chr5:127120000-127123000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:127120600-127121400	Enhancers	Duodenum Mucosa	Duodenum
6	chr5:127120600-127122200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:127120600-127122600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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