Variant report

Variant	rs6723493
Chromosome Location	chr2:211991229-211991230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10170004	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10497940	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12105986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370619	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370620	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437373	0.95[ASN][1000 genomes]
rs16824982	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672605	0.86[ASN][1000 genomes]
rs55634207	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55997007	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56002634	0.83[ASN][1000 genomes]
rs56153748	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56313456	0.81[ASN][1000 genomes]
rs59214701	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59712773	0.82[ASN][1000 genomes]
rs6731805	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67557079	0.82[ASN][1000 genomes]
rs6760475	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67776983	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72935627	0.93[ASN][1000 genomes]
rs72935675	0.94[ASN][1000 genomes]
rs72935680	0.95[ASN][1000 genomes]
rs72937616	0.81[ASN][1000 genomes]
rs72937623	0.82[ASN][1000 genomes]
rs72941619	0.82[ASN][1000 genomes]
rs7564709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9677922	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875773	chr2:211973600-212041403	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv460063	chr2:211981894-211996803	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv584311	chr2:211981894-211996803	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3358599	chr2:211991114-211991598	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6723493	C1QTNF5	trans	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211989000-211991600	Enhancers	Brain Germinal Matrix	brain
2	chr2:211991000-211991800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:211991000-211991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:211991000-211991800	Enhancers	Fetal Intestine Small	intestine

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