Variant report

Variant	rs2243384
Chromosome Location	chr6:117678083-117678084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1321806	0.86[MEX][hapmap]
rs1321807	0.89[CEU][hapmap];0.83[CHB][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes]
rs1407180	0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2038497	0.85[AMR][1000 genomes]
rs2243383	0.88[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes]
rs3798383	0.85[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs6942315	0.85[AMR][1000 genomes]
rs9320594	0.84[AMR][1000 genomes]
rs9320597	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs9374655	0.85[MEX][hapmap]
rs9401000	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs9401001	0.84[CEU][hapmap];0.83[CHB][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2243384	FRK	cis	cerebellum	SCAN
rs2243384	FAM26F	cis	cerebellum	SCAN
rs2243384	ZUFSP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117650400-117700000	Weak transcription	HSMM	muscle
2	chr6:117662000-117717200	Weak transcription	HSMMtube	muscle
3	chr6:117668200-117686800	Weak transcription	Osteobl	bone
4	chr6:117674200-117692200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:117676000-117678400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links