Variant report

Variant	rs58748147
Chromosome Location	chr21:17496012-17496013
allele	A/C/G/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]
rs10222055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28424182	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28886124	1.00[EUR][1000 genomes]
rs61645626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367165	1.00[EUR][1000 genomes]
rs7349006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73893205	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73893207	1.00[EUR][1000 genomes]
rs9808767	1.00[EUR][1000 genomes]
rs9974231	1.00[EUR][1000 genomes]
rs9976336	1.00[EUR][1000 genomes]
rs9979037	0.85[AMR][1000 genomes]
rs9984291	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985009	1.00[AMR][1000 genomes];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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17490800-17497000	Weak transcription	Colon Smooth Muscle	Colon
2	chr21:17491400-17496200	Weak transcription	NH-A	brain
3	chr21:17493200-17496200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:17494400-17497000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17494800-17497000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:17495800-17497000	Weak transcription	Adipose Nuclei	Adipose
7	chr21:17496000-17496800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17496000-17496800	Enhancers	NHDF-Ad	bronchial
9	chr21:17496000-17497000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr21:17496000-17497600	Enhancers	Fetal Lung	lung
11	chr21:17496000-17497800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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Input of quick search could be:

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

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