Variant report

Variant	rs2949692
Chromosome Location	chr7:65488943-65488944
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65480450..65482731-chr7:65488116..65489890,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10229450	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10279841	0.85[EUR][1000 genomes]
rs10807697	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167384	0.84[EUR][1000 genomes]
rs1167385	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167386	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768292	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12670952	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698512	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1631091	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1701751	0.93[EUR][1000 genomes]
rs1701757	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1701760	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723268	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723275	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880556	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1917563	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008188	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2462573	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2658585	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2658587	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692056	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2939548	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2946579	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2949690	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3201569	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34973832	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35135885	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35850374	0.83[EUR][1000 genomes]
rs4467826	0.85[EUR][1000 genomes]
rs55773927	0.82[EUR][1000 genomes]
rs56028712	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66552782	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6945322	0.82[EUR][1000 genomes]
rs6954920	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6955582	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960048	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs709604	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736270	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7383796	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784623	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7791814	0.82[EUR][1000 genomes]
rs7809991	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781143	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781144	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781145	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781151	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs781152	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9530	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2949692	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs2949692	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs2949692	RP4-756H11.3	cis	lung	GTEx
rs2949692	RP4-756H11.3	cis	Thyroid	GTEx
rs2949692	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs2949692	RP4-756H11.3	cis	Stomach	GTEx
rs2949692	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2949692	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs2949692	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs2949692	RP4-756H11.3	cis	Artery Tibial	GTEx
rs2949692	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs2949692	RP4-756H11.3	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65486800-65489600	Weak transcription	Pancreas	Pancrea
2	chr7:65488400-65489000	Enhancers	Liver	Liver

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