Variant report

Variant	rs16874707
Chromosome Location	chr5:5104273-5104274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10041690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074970	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108705	1.00[EUR][1000 genomes]
rs13354897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551942	1.00[EUR][1000 genomes]
rs1651743	1.00[EUR][1000 genomes]
rs16874580	1.00[EUR][1000 genomes]
rs16874600	1.00[EUR][1000 genomes]
rs16874607	1.00[EUR][1000 genomes]
rs16874713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28392909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55751833	1.00[EUR][1000 genomes]
rs56111006	1.00[EUR][1000 genomes]
rs56147613	1.00[EUR][1000 genomes]
rs57249853	1.00[EUR][1000 genomes]
rs58125360	1.00[EUR][1000 genomes]
rs59405131	1.00[EUR][1000 genomes]
rs59746989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60511041	1.00[EUR][1000 genomes]
rs61048069	1.00[EUR][1000 genomes]
rs6555330	1.00[EUR][1000 genomes]
rs6866843	1.00[ASN][1000 genomes]
rs6868249	1.00[EUR][1000 genomes]
rs6868252	1.00[EUR][1000 genomes]
rs6873058	1.00[EUR][1000 genomes]
rs6886525	1.00[EUR][1000 genomes]
rs73738308	1.00[EUR][1000 genomes]
rs73738309	1.00[EUR][1000 genomes]
rs73738321	1.00[EUR][1000 genomes]
rs73738330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73738332	1.00[EUR][1000 genomes]
rs7720792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725410	1.00[EUR][1000 genomes]
rs891002	1.00[EUR][1000 genomes]
rs891003	1.00[EUR][1000 genomes]
rs9284963	1.00[EUR][1000 genomes]
rs9313094	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816165	chr5:5103652-5109824	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv1817587	chr5:5103652-5109824	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv1822715	chr5:5103652-5109824	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16874707	GAS2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5103800-5105200	Weak transcription	HSMM	muscle

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