Variant report

Variant	rs16939630
Chromosome Location	chr8:79057884-79057885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089274	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10096125	0.93[EUR][1000 genomes]
rs10504664	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10957883	0.80[AMR][1000 genomes]
rs12335288	0.93[EUR][1000 genomes]
rs16905546	0.91[EUR][1000 genomes]
rs16905558	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16939611	0.89[AMR][1000 genomes]
rs16939613	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16939626	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16939627	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28441036	0.93[EUR][1000 genomes]
rs28818281	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34883856	0.91[EUR][1000 genomes]
rs55915248	0.93[EUR][1000 genomes]
rs56107472	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62510273	0.84[AMR][1000 genomes]
rs62510274	0.84[AMR][1000 genomes]
rs62510299	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62518485	0.93[EUR][1000 genomes]
rs62518491	0.93[EUR][1000 genomes]
rs62518502	0.87[EUR][1000 genomes]
rs6995312	0.80[AMR][1000 genomes]
rs72674515	0.84[AMR][1000 genomes]
rs72674598	0.93[EUR][1000 genomes]
rs9298309	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831364	chr8:79034769-79223319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16939630	ZBTB10	cis	cerebellum	SCAN
rs16939630	FAM164A	cis	cerebellum	SCAN
rs16939630	STMN2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79052600-79063600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:79057200-79058000	Enhancers	Adipose Nuclei	Adipose
3	chr8:79057200-79058200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:79057200-79058200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:79057200-79058600	Enhancers	Colon Smooth Muscle	Colon

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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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