Variant report

Variant	rs10932339
Chromosome Location	chr2:211381486-211381487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10172081	0.89[GIH][hapmap]
rs10932334	0.89[CEU][hapmap]
rs10932341	0.89[GIH][hapmap]
rs10932342	0.89[GIH][hapmap]
rs10932343	0.89[GIH][hapmap]
rs11904031	0.89[GIH][hapmap]
rs12694202	0.81[JPT][hapmap]
rs12694203	0.81[JPT][hapmap]
rs1509820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2007748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012564	0.84[GIH][hapmap]
rs2042049	0.82[YRI][hapmap]
rs2250976	0.84[GIH][hapmap]
rs2287418	0.89[CEU][hapmap]
rs2287420	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs2287603	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2370948	0.83[YRI][hapmap]
rs2370961	0.81[ASN][1000 genomes]
rs2370998	0.81[JPT][hapmap]
rs2664231	0.89[GIH][hapmap]
rs2664232	0.89[GIH][hapmap]
rs2887913	0.89[GIH][hapmap]
rs3755182	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs58133833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60112891	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6712000	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6744672	0.89[GIH][hapmap]
rs7573258	0.81[JPT][hapmap]
rs7580046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7603241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs981024	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10932339	CPS1	cis	Adipose Subcutaneous	GTEx
rs10932339	CPS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10932339	CPS1	cis	lung	GTEx
rs10932339	LANCL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211380200-211384400	Enhancers	Duodenum Mucosa	Duodenum
2	chr2:211380800-211383600	Enhancers	Fetal Intestine Small	intestine
3	chr2:211381000-211381600	Enhancers	Fetal Intestine Large	intestine

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