Variant report

Variant	rs13436530
Chromosome Location	chr5:119726395-119726396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10036031	0.87[EUR][1000 genomes]
rs10051546	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10056249	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10068206	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12719276	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13154169	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13361012	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13361317	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17164648	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28786120	0.94[EUR][1000 genomes]
rs33936956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6864618	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs714809	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71586481	1.00[AMR][1000 genomes];0.90[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119722800-119727400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:119723400-119726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:119724000-119726400	Enhancers	Dnd41	blood
4	chr5:119724600-119735200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119725000-119731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:119725600-119732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119725800-119730800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119725800-119731400	Weak transcription	NHDF-Ad	bronchial
9	chr5:119726000-119730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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