Variant report

Variant	rs7984310
Chromosome Location	chr13:48052443-48052444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10507558	0.89[EUR][1000 genomes]
rs11617662	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11618099	0.92[EUR][1000 genomes]
rs11618168	0.89[EUR][1000 genomes]
rs12585227	0.89[EUR][1000 genomes]
rs1340342	0.90[EUR][1000 genomes]
rs1340343	0.90[EUR][1000 genomes]
rs1340344	0.90[EUR][1000 genomes]
rs1409483	0.84[EUR][1000 genomes]
rs17070149	0.81[ASN][1000 genomes]
rs2406331	0.92[EUR][1000 genomes]
rs4131976	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4257112	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4284535	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4303377	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4368074	0.87[EUR][1000 genomes]
rs4383047	0.86[EUR][1000 genomes]
rs4470048	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4622408	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4627222	0.80[ASN][1000 genomes]
rs4941592	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4942642	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59309287	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61951795	0.83[EUR][1000 genomes]
rs7322715	0.81[ASN][1000 genomes]
rs7322882	0.81[ASN][1000 genomes]
rs7338544	0.83[ASN][1000 genomes]
rs7984261	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7988780	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316293	0.90[EUR][1000 genomes]
rs9526339	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9526340	0.86[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs9526341	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9526342	0.85[EUR][1000 genomes]
rs9534658	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9534659	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9534661	0.81[EUR][1000 genomes]
rs9534662	0.85[EUR][1000 genomes]
rs9534663	0.85[EUR][1000 genomes]
rs9534664	0.85[EUR][1000 genomes]
rs9567854	0.92[EUR][1000 genomes]
rs9567856	0.91[EUR][1000 genomes]
rs9567865	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9567872	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9591064	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9595722	0.81[ASN][1000 genomes]
rs9595723	0.81[ASN][1000 genomes]
rs9595724	0.81[ASN][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48049600-48053600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:48049800-48054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:48050000-48053000	Weak transcription	Liver	Liver
4	chr13:48050000-48053200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:48050800-48053000	Weak transcription	Hela-S3	cervix
6	chr13:48052400-48053600	Enhancers	Primary monocytes fromperipheralblood	blood

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