Variant report

Variant	rs2260998
Chromosome Location	chr5:114739378-114739379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12523614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12652178	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12652193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12654224	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12658313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2166338	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2260996	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2416408	0.93[AFR][1000 genomes]
rs2416410	0.93[AFR][1000 genomes]
rs2591250	0.93[AFR][1000 genomes]
rs2591251	0.81[AFR][1000 genomes]
rs2591252	0.93[AFR][1000 genomes]
rs2591253	0.81[AFR][1000 genomes]
rs2591254	0.93[AFR][1000 genomes]
rs2591255	0.93[AFR][1000 genomes]
rs2591262	0.83[AMR][1000 genomes]
rs2591263	0.83[AMR][1000 genomes]
rs2605185	0.81[AFR][1000 genomes]
rs2605186	0.93[AFR][1000 genomes]
rs2605188	0.93[AFR][1000 genomes]
rs2605189	0.93[AFR][1000 genomes]
rs2605191	0.93[AFR][1000 genomes]
rs2925188	0.93[AFR][1000 genomes]
rs2925189	0.93[AFR][1000 genomes]
rs2964548	0.93[AFR][1000 genomes]
rs35561259	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57327202	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58024996	0.80[AFR][1000 genomes]
rs58409112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59536476	0.83[AFR][1000 genomes]
rs60523123	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61552449	0.89[AFR][1000 genomes]
rs62372573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62372574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865555	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71588762	0.81[AFR][1000 genomes]
rs959872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3471333	chr5:114731598-114739727	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3520590	chr5:114731610-114739722	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3471334	chr5:114731612-114739723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3520591	chr5:114731612-114739723	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3336157	chr5:114739149-114739481	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3361814	chr5:114739334-114739772	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114737800-114739400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114737800-114739400	Enhancers	NHDF-Ad	bronchial
3	chr5:114737800-114739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:114738000-114739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:114738600-114739400	Enhancers	NH-A	brain
6	chr5:114738600-114739600	Weak transcription	Ovary	ovary
7	chr5:114738800-114739600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:114738800-114739600	Enhancers	Osteobl	bone
9	chr5:114739000-114739400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:114739200-114739400	Enhancers	Aorta	Aorta
11	chr5:114739200-114739400	Enhancers	Lung	lung

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