Variant report

Variant	rs348639
Chromosome Location	chr12:62464334-62464335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1146079	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs191551	0.80[JPT][hapmap]
rs2951531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348635	0.80[JPT][hapmap]
rs348636	0.86[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs348638	0.90[JPT][hapmap];0.83[MEX][hapmap]
rs348652	0.90[JPT][hapmap]
rs348654	0.90[JPT][hapmap]
rs348655	0.90[JPT][hapmap]
rs348662	0.80[JPT][hapmap]
rs348663	0.80[JPT][hapmap]
rs348664	0.89[JPT][hapmap]
rs348672	0.89[CEU][hapmap];0.89[CHB][hapmap]
rs348675	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348676	0.89[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs348686	0.90[JPT][hapmap]
rs348687	0.90[JPT][hapmap];0.83[ASN][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	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs348639	MIP	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62462800-62464400	Enhancers	Fetal Lung	lung
2	chr12:62462800-62465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:62463600-62464800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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