Variant report

Variant	rs13418561
Chromosome Location	chr2:188150214-188150215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10174456	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10181845	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10191833	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931288	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11685426	0.80[EUR][1000 genomes]
rs11688116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694265	0.87[EUR][1000 genomes]
rs13013355	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13392947	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409829	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13411274	0.88[EUR][1000 genomes]
rs13427277	0.85[EUR][1000 genomes]
rs13430354	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13430665	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13432996	0.91[AFR][1000 genomes]
rs1398061	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1528233	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1528236	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1540859	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1609268	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1632282	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706254	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706261	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706262	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706273	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1706276	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1728678	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1728680	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1728690	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756804	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918902	0.87[EUR][1000 genomes]
rs1983492	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2030976	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2203117	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2349315	0.81[EUR][1000 genomes]
rs36146505	0.84[ASN][1000 genomes]
rs3771078	0.81[EUR][1000 genomes]
rs3821180	0.80[EUR][1000 genomes]
rs3821184	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4356630	0.88[AFR][1000 genomes]
rs4667160	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59400383	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60343740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172510	0.87[EUR][1000 genomes]
rs62172532	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172533	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434219	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67285003	0.80[EUR][1000 genomes]
rs6744012	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753700	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs696092	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698579	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698582	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698583	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698588	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698590	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698592	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698593	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72902495	0.81[EUR][1000 genomes]
rs840564	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840567	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840569	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840570	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840571	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840572	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840574	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840576	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840577	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840578	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840583	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840584	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840585	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840586	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840587	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840588	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840589	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840590	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840591	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840593	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840595	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840596	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840597	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840609	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs840610	0.85[ASN][1000 genomes]
rs840611	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs840616	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs858744	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858756	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858758	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs858759	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs858919	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs860846	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs860859	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs861458	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs863972	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs865763	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880890	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907463	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9288140	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv584035	chr2:188105078-188153421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv431868	chr2:188119621-188159750	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13418561	CALCRL	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188149400-188150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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