Variant report

Variant	rs60300181
Chromosome Location	chr21:17491356-17491357
allele	C/G
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]
rs16993384	1.00[AMR][1000 genomes]
rs16993387	1.00[AMR][1000 genomes]
rs16993393	1.00[AMR][1000 genomes]
rs16993394	1.00[AMR][1000 genomes]
rs16993505	1.00[AMR][1000 genomes]
rs16993558	1.00[AMR][1000 genomes]
rs57469115	1.00[AMR][1000 genomes]
rs57936518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59631437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167288	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881076	1.00[AFR][1000 genomes];1.00[AMR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17490200-17492200	Enhancers	NHDF-Ad	bronchial
2	chr21:17490400-17491600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:17490600-17491600	Enhancers	HUVEC	blood vessel
4	chr21:17490800-17491400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:17490800-17491400	Enhancers	NH-A	brain
6	chr21:17490800-17491800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:17490800-17491800	Weak transcription	Right Atrium	heart
8	chr21:17490800-17491800	Enhancers	Osteobl	bone
9	chr21:17490800-17493600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17490800-17495800	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17490800-17496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:17490800-17497000	Weak transcription	Colon Smooth Muscle	Colon
13	chr21:17491000-17492000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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