Variant report

Variant	rs2157588
Chromosome Location	chr1:175107826-175107827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1018830	1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs1057302	0.81[CHD][hapmap]
rs10912890	0.81[YRI][hapmap]
rs12087735	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs12094153	0.86[ASW][hapmap];0.82[CEU][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap]
rs7521981	0.86[ASW][hapmap];0.82[CEU][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap]

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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2157588	MRPS14	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175105200-175110000	Weak transcription	GM12878-XiMat	blood
2	chr1:175105800-175108000	Enhancers	Adipose Nuclei	Adipose
3	chr1:175106000-175108000	Enhancers	Fetal Lung	lung
4	chr1:175107200-175108000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:175107200-175108200	Enhancers	Liver	Liver
6	chr1:175107600-175108000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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