Variant report

Variant	rs1370619
Chromosome Location	chr2:211990188-211990189
allele	C/T
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:
2	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10170004	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10497940	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12105986	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437373	1.00[ASN][1000 genomes]
rs16824982	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672605	0.83[ASN][1000 genomes]
rs55634207	0.80[EUR][1000 genomes]
rs55997007	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56002634	0.88[ASN][1000 genomes]
rs56153748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59214701	0.80[EUR][1000 genomes]
rs59712773	0.85[ASN][1000 genomes]
rs6723493	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6731805	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67557079	0.80[ASN][1000 genomes]
rs6760475	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67776983	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72935627	0.96[ASN][1000 genomes]
rs72935675	0.93[ASN][1000 genomes]
rs72935680	0.93[ASN][1000 genomes]
rs72937623	0.80[ASN][1000 genomes]
rs72941619	0.80[ASN][1000 genomes]
rs7564709	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1370619	C1QTNF5	trans	cerebellum	SCAN
rs1370619	ADAM23	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211989000-211991600	Enhancers	Brain Germinal Matrix	brain
2	chr2:211989600-211991000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links