Variant report

Variant	rs62280609
Chromosome Location	chr3:100914314-100914315
allele	G/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:49)

rs_ID	r²[population]
rs10511189	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1520654	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16843627	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16843634	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16843699	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2271972	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2449822	0.80[ASN][1000 genomes]
rs35902489	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732893	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3773915	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3773917	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3773918	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs476090	0.80[ASN][1000 genomes]
rs479522	0.80[ASN][1000 genomes]
rs479723	0.80[ASN][1000 genomes]
rs481809	0.80[ASN][1000 genomes]
rs482436	0.80[ASN][1000 genomes]
rs482976	0.82[ASN][1000 genomes]
rs485130	0.80[ASN][1000 genomes]
rs513994	0.80[ASN][1000 genomes]
rs515307	0.80[ASN][1000 genomes]
rs516312	0.80[ASN][1000 genomes]
rs527836	0.80[ASN][1000 genomes]
rs535881	0.80[ASN][1000 genomes]
rs536561	0.80[ASN][1000 genomes]
rs538834	0.80[ASN][1000 genomes]
rs567983	0.80[ASN][1000 genomes]
rs62280607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280631	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280633	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280636	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62280637	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62282871	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62282873	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62282875	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62282885	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62282886	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62282887	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62282888	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62282889	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441595	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6793895	0.82[AFR][1000 genomes]
rs6796058	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6798685	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs693428	0.82[ASN][1000 genomes]
rs72932462	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7611378	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7632064	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7634592	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2754039	chr3:100882310-100981310	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100904600-100914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100912600-100916400	Enhancers	HSMMtube	muscle
3	chr3:100913000-100914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:100913000-100914600	Weak transcription	A549	lung
5	chr3:100913000-100914800	Weak transcription	HSMM	muscle
6	chr3:100913200-100914600	Weak transcription	Hela-S3	cervix
7	chr3:100913200-100914800	Weak transcription	NH-A	brain
8	chr3:100913200-100922200	Weak transcription	NHLF	lung
9	chr3:100913400-100914400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:100913400-100914400	Weak transcription	NHEK	skin
11	chr3:100913400-100914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:100913400-100914600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:100913400-100914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:100913400-100914600	Weak transcription	HMEC	breast
15	chr3:100913400-100914600	Weak transcription	NHDF-Ad	bronchial
16	chr3:100913400-100914600	Weak transcription	Osteobl	bone
17	chr3:100913800-100914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:100914000-100916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:100914200-100915600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:100914200-100916800	Enhancers	HUVEC	blood vessel

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