Variant report

Variant	rs11712427
Chromosome Location	chr3:21934728-21934729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10510519	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11718697	0.83[AMR][1000 genomes]
rs12485261	0.85[AMR][1000 genomes]
rs17009905	0.90[ASN][1000 genomes]
rs17009918	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17009967	0.96[EUR][1000 genomes]
rs17010054	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010055	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010073	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010081	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2336513	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259484	0.96[ASN][1000 genomes]
rs259527	0.88[ASN][1000 genomes]
rs3849560	0.96[EUR][1000 genomes]
rs3890082	0.90[ASN][1000 genomes]
rs3890083	0.90[ASN][1000 genomes]
rs3900200	0.96[EUR][1000 genomes]
rs3912211	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4089560	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5003417	0.96[EUR][1000 genomes]
rs73040559	0.85[AMR][1000 genomes]
rs73040587	0.90[ASN][1000 genomes]
rs9812511	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834632	chr3:21803941-21974082	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv834633	chr3:21918264-22088338	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv876614	chr3:21919039-21994022	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv998906	chr3:21921707-21962293	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1014821	chr3:21929218-21962293	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21930800-21940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21933200-21935800	Weak transcription	Fetal Kidney	kidney
3	chr3:21933200-21936200	Weak transcription	Fetal Lung	lung
4	chr3:21934400-21934800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:21934400-21935200	Enhancers	Fetal Heart	heart
6	chr3:21934600-21934800	Enhancers	NHLF	lung
7	chr3:21934600-21935000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:21934600-21935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:21934600-21935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:21934600-21935200	Enhancers	HSMM	muscle
11	chr3:21934600-21935200	Enhancers	HSMMtube	muscle
12	chr3:21934600-21935400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:21934600-21936000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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