Variant report

Variant	rs59378421
Chromosome Location	chr16:48114460-48114461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs55851123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936211	0.81[AFR][1000 genomes]
rs56009985	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57099207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57450977	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57753446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57859694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58155673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58806759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59721874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60355109	0.86[AFR][1000 genomes]
rs60387445	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60591237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61080373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61280053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61507438	1.00[AMR][1000 genomes]
rs61639468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539201	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540804	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540806	0.82[AFR][1000 genomes]
rs73540814	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540863	1.00[AMR][1000 genomes]
rs73540867	1.00[AMR][1000 genomes]
rs74018244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
2	esv2761906	chr16:48109727-48125855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48110200-48115200	Weak transcription	HSMM	muscle
2	chr16:48110400-48114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:48111000-48115000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:48111000-48115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:48111800-48115200	Weak transcription	NHLF	lung
6	chr16:48112200-48114600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:48112200-48114800	Weak transcription	A549	lung
8	chr16:48114200-48116800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:48114200-48117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:48114400-48115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:48114400-48115800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:48114400-48115800	Enhancers	Osteobl	bone

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