Variant report

Variant	rs13357683
Chromosome Location	chr5:88852215-88852216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10042639	1.00[EUR][1000 genomes]
rs13354364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355514	1.00[EUR][1000 genomes]
rs6872445	1.00[EUR][1000 genomes]
rs6877903	1.00[EUR][1000 genomes]
rs6889960	1.00[EUR][1000 genomes]
rs73180667	1.00[EUR][1000 genomes]
rs73180668	1.00[EUR][1000 genomes]
rs73182633	1.00[EUR][1000 genomes]
rs73182634	1.00[EUR][1000 genomes]
rs73186550	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830389	chr5:88669984-88860383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88851400-88853000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:88851800-88853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:88851800-88853000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:88851800-88853000	Enhancers	NHEK	skin
5	chr5:88851800-88853000	Enhancers	Osteobl	bone
6	chr5:88851800-88853200	Enhancers	NH-A	brain
7	chr5:88852000-88852600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:88852000-88852600	Enhancers	HSMMtube	muscle
9	chr5:88852000-88852600	Enhancers	HUVEC	blood vessel
10	chr5:88852000-88852800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:88852000-88852800	Enhancers	NHDF-Ad	bronchial
12	chr5:88852000-88852800	Enhancers	NHLF	lung
13	chr5:88852000-88853000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:88852000-88853000	Enhancers	HSMM	muscle
15	chr5:88852000-88853200	Enhancers	HMEC	breast
16	chr5:88852000-88853800	Enhancers	Hela-S3	cervix
17	chr5:88852200-88852400	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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