Variant report

Variant	rs57808386
Chromosome Location	chr5:95355216-95355217
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]
rs28926199	1.00[AMR][1000 genomes]
rs4330485	1.00[AMR][1000 genomes]
rs55652330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55757346	1.00[AMR][1000 genomes]
rs57217517	1.00[AMR][1000 genomes]
rs58292647	1.00[AMR][1000 genomes]
rs59433710	1.00[AMR][1000 genomes]
rs60897703	1.00[AMR][1000 genomes]
rs61572029	1.00[AMR][1000 genomes]
rs6870381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136516	1.00[AMR][1000 genomes]
rs73771803	1.00[AMR][1000 genomes]
rs73771806	1.00[AMR][1000 genomes]
rs73771809	1.00[AMR][1000 genomes]
rs73771826	1.00[AMR][1000 genomes]
rs73771828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771831	1.00[AMR][1000 genomes]
rs73771837	1.00[AMR][1000 genomes]
rs73771838	1.00[AMR][1000 genomes]
rs73771843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773854	1.00[AMR][1000 genomes]
rs73773855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705187	1.00[AMR][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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95333600-95360800	Weak transcription	Pancreas	Pancrea
2	chr5:95348800-95358800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95353200-95357800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:95353600-95355400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:95354200-95358800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:95354200-95358800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95354200-95358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:95354200-95359200	Weak transcription	NH-A	brain
9	chr5:95354200-95360800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:95354400-95358600	Weak transcription	Osteobl	bone
11	chr5:95354400-95358800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:95354400-95358800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:95354400-95359000	Weak transcription	A549	lung
14	chr5:95354600-95358800	Weak transcription	Hela-S3	cervix
15	chr5:95354800-95358600	Weak transcription	NHDF-Ad	bronchial
16	chr5:95354800-95358800	Weak transcription	NHLF	lung
17	chr5:95355000-95356000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:95355000-95356200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:95355000-95358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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