Variant report

Variant	rs10497947
Chromosome Location	chr2:212435516-212435517
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10174916	0.84[EUR][1000 genomes]
rs11885579	0.83[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs11886732	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs11896454	0.87[EUR][1000 genomes]
rs12622730	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694242	0.94[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs17335057	0.82[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs17413281	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1829618	0.80[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs1851200	0.96[GIH][hapmap];0.82[MEX][hapmap]
rs1879531	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1879532	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs61250365	0.91[EUR][1000 genomes]
rs6732969	1.00[CEU][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6735769	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6737763	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs6759048	0.96[GIH][hapmap];0.82[MEX][hapmap]
rs7595473	0.83[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv460069	chr2:212415948-212471642	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv584320	chr2:212415948-212471642	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10497947	CPS1IT1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212419400-212451800	Weak transcription	Aorta	Aorta
2	chr2:212426800-212437200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212429000-212437200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212435400-212450000	Weak transcription	Fetal Heart	heart

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