Variant report

Variant	rs10804186
Chromosome Location	chr2:211495110-211495111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165443	0.82[CEU][hapmap]
rs11685955	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12694205	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12694206	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2287599	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs2887914	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4312427	0.82[CEU][hapmap]
rs4396646	0.82[CEU][hapmap]
rs4399666	0.82[CEU][hapmap]
rs6750325	0.84[MKK][hapmap]
rs7587701	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7587791	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7598448	0.88[CEU][hapmap]

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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10804186	CPS1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211491000-211498200	Weak transcription	Hela-S3	cervix
2	chr2:211492000-211495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:211492600-211495400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211493000-211495200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:211493200-211496200	Weak transcription	Liver	Liver
6	chr2:211493600-211498400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:211494800-211496200	Weak transcription	Fetal Intestine Small	intestine

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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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