Variant report

Variant	rs2083530
Chromosome Location	chr4:68675785-68675786
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10022223	0.81[ASN][1000 genomes]
rs10030794	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10031870	0.81[ASN][1000 genomes]
rs10032416	0.87[ASN][1000 genomes]
rs10461303	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11131727	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11131728	0.95[ASN][1000 genomes]
rs12511895	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12511924	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13110293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142201	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1371927	0.90[EUR][1000 genomes]
rs1371928	0.92[ASN][1000 genomes]
rs1440734	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486132	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1905985	0.81[ASN][1000 genomes]
rs1905986	0.81[ASN][1000 genomes]
rs2083529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196965	0.81[ASN][1000 genomes]
rs2196966	0.81[ASN][1000 genomes]
rs2218207	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874031	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4561973	0.81[ASN][1000 genomes]
rs58567891	0.89[ASN][1000 genomes]
rs58942018	0.94[ASN][1000 genomes]
rs6552117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6552124	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67716342	0.89[EUR][1000 genomes]
rs6835217	0.81[ASN][1000 genomes]
rs7654002	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697526	0.80[ASN][1000 genomes]
rs974333	0.81[ASN][1000 genomes]
rs9990528	0.81[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	nsv879214	chr4:68389841-68789778	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv829960	chr4:68649237-68809629	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3446954	chr4:68653705-68709553	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68668600-68677200	Weak transcription	Right Ventricle	heart
2	chr4:68669000-68678000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:68674000-68676200	Weak transcription	Ovary	ovary
4	chr4:68674800-68675800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr4:68675000-68676000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:68675600-68675800	Enhancers	HepG2	liver
7	chr4:68675600-68676800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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