Variant report

Variant	rs2060286
Chromosome Location	chr4:124699770-124699771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124699081..124701132-chr4:124702124..124704664,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10030323	0.82[EUR][1000 genomes]
rs10518423	0.87[EUR][1000 genomes]
rs11098720	0.87[EUR][1000 genomes]
rs11098721	0.87[EUR][1000 genomes]
rs11940296	0.87[EUR][1000 genomes]
rs11945657	0.83[EUR][1000 genomes]
rs12501940	0.87[EUR][1000 genomes]
rs12511921	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347187	0.81[EUR][1000 genomes]
rs1364872	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1368507	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1425418	0.87[EUR][1000 genomes]
rs16997770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17007229	0.85[EUR][1000 genomes]
rs17007245	0.87[EUR][1000 genomes]
rs1820372	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1865127	0.82[EUR][1000 genomes]
rs1897621	0.81[EUR][1000 genomes]
rs1986305	0.81[EUR][1000 genomes]
rs2390589	0.81[EUR][1000 genomes]
rs28776500	0.87[EUR][1000 genomes]
rs35477987	0.87[EUR][1000 genomes]
rs4833288	0.87[EUR][1000 genomes]
rs4833940	0.87[EUR][1000 genomes]
rs4833953	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57303010	0.87[EUR][1000 genomes]
rs62321806	0.82[EUR][1000 genomes]
rs62321807	0.81[EUR][1000 genomes]
rs6820127	0.87[EUR][1000 genomes]
rs6820130	0.88[EUR][1000 genomes]
rs6822987	0.81[EUR][1000 genomes]
rs6823436	0.87[EUR][1000 genomes]
rs6825185	0.88[EUR][1000 genomes]
rs6847923	0.87[EUR][1000 genomes]
rs6848387	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72621841	0.82[EUR][1000 genomes]
rs72621843	0.87[EUR][1000 genomes]
rs72621845	0.83[EUR][1000 genomes]
rs72621846	0.82[EUR][1000 genomes]
rs7659752	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7683595	0.83[EUR][1000 genomes]
rs919015	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963892	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124694200-124707800	Weak transcription	Pancreas	Pancrea
3	chr4:124697800-124699800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124698600-124704800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:124698800-124703600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:124698800-124708000	Weak transcription	Right Atrium	heart
7	chr4:124699000-124703800	Weak transcription	NHDF-Ad	bronchial
8	chr4:124699200-124699800	Weak transcription	Ovary	ovary
9	chr4:124699200-124703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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