Variant report

Variant	rs2371030
Chromosome Location	chr2:211569722-211569723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10167685	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10184528	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10192656	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10211079	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211086	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932350	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10932351	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12473077	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12473296	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12998879	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13000743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006513	1.00[ASN][1000 genomes]
rs1319591	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111713	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2193616	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193618	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2216403	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287412	0.83[ASN][1000 genomes]
rs2287416	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371026	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2371027	0.82[EUR][1000 genomes]
rs2371029	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2371031	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371034	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2887916	1.00[ASN][1000 genomes]
rs4477843	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4517917	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4530296	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4608460	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4619536	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4672590	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673548	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7586579	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv821631	chr2:211528918-211658981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Non-small cell lung cancer	23144319	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2371030	CPS1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211562800-211587600	Weak transcription	Liver	Liver
2	chr2:211569200-211569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:211569400-211570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:211569600-211569800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:211569600-211577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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