Variant report

Variant	rs2053408
Chromosome Location	chr4:47975235-47975236
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10938515	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944982	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1507922	0.93[ASN][1000 genomes]
rs1583808	0.91[EUR][1000 genomes]
rs16860723	0.91[EUR][1000 genomes]
rs16860815	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17654669	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961011	0.88[ASN][1000 genomes]
rs2033897	0.91[EUR][1000 genomes]
rs3113878	0.88[ASN][1000 genomes]
rs321636	0.88[ASN][1000 genomes]
rs321638	0.83[ASN][1000 genomes]
rs321643	0.88[ASN][1000 genomes]
rs321645	0.86[ASN][1000 genomes]
rs4518215	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4695285	0.85[EUR][1000 genomes]
rs4695286	0.91[EUR][1000 genomes]
rs4695300	0.91[EUR][1000 genomes]
rs4695307	0.91[EUR][1000 genomes]
rs4695308	0.82[EUR][1000 genomes]
rs4695321	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57010305	0.91[EUR][1000 genomes]
rs58511183	0.91[EUR][1000 genomes]
rs59936075	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60427744	0.91[EUR][1000 genomes]
rs61654183	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6447601	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6447605	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447606	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6447608	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6811385	0.91[EUR][1000 genomes]
rs6816153	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6829804	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6838837	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839185	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73238637	0.87[EUR][1000 genomes]
rs73238639	0.91[EUR][1000 genomes]
rs73244433	0.87[EUR][1000 genomes]
rs73244436	0.91[EUR][1000 genomes]
rs73244437	0.91[EUR][1000 genomes]
rs73244438	0.91[EUR][1000 genomes]
rs73244439	0.91[EUR][1000 genomes]
rs73244442	0.91[EUR][1000 genomes]
rs73244446	0.81[EUR][1000 genomes]
rs73244450	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73244455	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73244464	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73244465	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73244466	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73244467	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667811	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7690103	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9683791	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv967291	chr4:47954000-47981934	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:47973800-47975400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:47975200-47976400	Weak transcription	Monocytes-CD14+_RO01746	blood

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