Variant report

Variant	rs60146521
Chromosome Location	chr5:119721201-119721202
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1432459	1.00[AMR][1000 genomes]
rs17146484	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146514	0.85[AMR][1000 genomes]
rs17146550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146582	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338822	0.85[AMR][1000 genomes]
rs57526008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61629516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595230	0.80[AFR][1000 genomes]
rs6891906	0.92[AFR][1000 genomes]
rs6898093	1.00[AMR][1000 genomes]
rs6898472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73782016	0.85[AMR][1000 genomes]
rs7736729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv527509	chr5:119697716-119724069	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	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	chr5:119715400-119723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119719000-119721600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:119719000-119722600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:119719200-119721600	Weak transcription	Dnd41	blood
5	chr5:119719200-119722400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119720600-119722600	Weak transcription	HMEC	breast
7	chr5:119721000-119725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119721000-119725800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:119721200-119721400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:119721200-119722400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119721200-119725800	Enhancers	NHDF-Ad	bronchial

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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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