Variant report

Variant	rs2385127
Chromosome Location	chr8:49975746-49975747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49972978..49975777-chr8:49977348..49979719,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10435575	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10504073	0.87[ASN][1000 genomes]
rs10957357	1.00[YRI][hapmap]
rs10957363	0.89[ASN][1000 genomes]
rs11990854	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12545097	0.96[ASN][1000 genomes]
rs12680366	0.91[ASN][1000 genomes]
rs13268440	0.89[ASN][1000 genomes]
rs13270448	0.85[ASN][1000 genomes]
rs1828495	0.96[ASN][1000 genomes]
rs1858312	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1876717	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2137013	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236494	0.84[EUR][1000 genomes]
rs2385229	0.89[ASN][1000 genomes]
rs2385230	0.87[ASN][1000 genomes]
rs341804	0.84[CEU][hapmap]
rs341815	0.90[EUR][1000 genomes]
rs4873092	1.00[YRI][hapmap]
rs4873093	0.92[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873094	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4873095	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4873099	0.87[ASN][1000 genomes]
rs4873100	0.87[ASN][1000 genomes]
rs4873303	0.87[ASN][1000 genomes]
rs4873308	0.93[AFR][1000 genomes]
rs4873310	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6983929	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6984804	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.89[TSI][hapmap];0.89[ASN][1000 genomes]
rs7005693	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7011891	0.93[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7013425	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7835336	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs818557	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs974781	0.91[ASN][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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2385127	C8orf22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49972000-49977800	Weak transcription	Psoas Muscle	Psoas
2	chr8:49974600-49979600	Enhancers	Adipose Nuclei	Adipose
3	chr8:49975200-49978400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:49975200-49978600	Enhancers	Hela-S3	cervix
5	chr8:49975600-49978200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links