Variant report

Variant	rs12694206
Chromosome Location	chr2:211499394-211499395
allele	A/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:17)

rs_ID	r²[population]
rs10176085	0.80[ASN][1000 genomes]
rs10804186	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11680040	0.82[ASN][1000 genomes]
rs11685945	1.00[JPT][hapmap]
rs11685955	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12468557	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12694205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401425	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2287599	0.82[EUR][1000 genomes]
rs2371005	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2371006	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6750325	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7568329	0.86[ASN][1000 genomes]
rs7587701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607205	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7607412	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12694206	CPS1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211495200-211508000	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:211496200-211524800	Strong transcription	Liver	Liver
3	chr2:211496400-211504400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211497400-211518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:211498200-211529000	Strong transcription	Hela-S3	cervix
6	chr2:211498400-211499400	Strong transcription	Fetal Intestine Large	intestine
7	chr2:211498600-211501800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:211498800-211504200	Strong 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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