Variant report

Variant	rs534621
Chromosome Location	chr6:145572165-145572166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12203238	0.81[ASN][1000 genomes]
rs2064875	0.82[EUR][1000 genomes]
rs2743955	0.88[EUR][1000 genomes]
rs2753088	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2753090	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs471039	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474562	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs488055	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs502016	0.91[EUR][1000 genomes]
rs503180	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs509673	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs509810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511519	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512301	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs512376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs518402	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs522080	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs523704	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs523820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524460	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs535580	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552434	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs563352	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs577443	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6939914	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs534621	KREMEN2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145569200-145574400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:145569400-145574000	Weak transcription	Hela-S3	cervix
3	chr6:145570200-145572200	Enhancers	Liver	Liver
4	chr6:145571000-145572200	Enhancers	HepG2	liver

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