Variant report

Variant	rs62172533
Chromosome Location	chr2:188131585-188131586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10174456	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10181845	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10191833	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931288	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11685426	0.81[EUR][1000 genomes]
rs11688116	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688157	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694265	0.86[EUR][1000 genomes]
rs13013355	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13392947	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409829	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13411274	0.89[EUR][1000 genomes]
rs13418561	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427277	0.84[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	0.92[AFR][1000 genomes]
rs1398061	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1528233	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1528236	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1540859	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1609268	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1632282	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706246	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706254	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706261	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706262	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706273	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1706276	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1728678	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1728680	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1728690	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756804	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918902	0.86[EUR][1000 genomes]
rs1983492	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2030976	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2203117	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[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	0.81[EUR][1000 genomes]
rs3821184	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4356630	0.87[AFR][1000 genomes]
rs4667160	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59400383	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60343740	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172510	0.86[EUR][1000 genomes]
rs62172532	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434219	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6719550	0.80[EUR][1000 genomes]
rs67285003	0.81[EUR][1000 genomes]
rs6744012	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753700	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs696092	0.89[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	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698588	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698590	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698592	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698593	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72902495	0.81[EUR][1000 genomes]
rs840564	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840567	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840569	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840570	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840571	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840572	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840574	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840576	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840577	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840578	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840583	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840584	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840585	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840586	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840587	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840588	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840589	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840590	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840591	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840593	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840595	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840596	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840597	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840609	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs840610	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs840611	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs840616	0.85[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	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs860846	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs860859	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs861458	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs863972	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs865763	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880890	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907463	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9288140	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	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
7	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	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
10	nsv875556	chr2:188083300-188135654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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
12	nsv584033	chr2:188103476-188135654	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv584034	chr2:188103476-188143677	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	nsv1002116	chr2:188119621-188142073	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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
rs62172533	CALCRL	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188130000-188131600	Enhancers	HUVEC	blood vessel
2	chr2:188130800-188133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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