Variant report

Variant	rs6471875
Chromosome Location	chr8:61299528-61299529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10957133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776939	0.89[EUR][1000 genomes]
rs11995549	0.81[EUR][1000 genomes]
rs13265543	0.85[EUR][1000 genomes]
rs1552071	0.90[EUR][1000 genomes]
rs17814894	0.90[EUR][1000 genomes]
rs1842389	0.90[EUR][1000 genomes]
rs2013112	0.82[EUR][1000 genomes]
rs2096890	0.81[EUR][1000 genomes]
rs2186986	0.84[EUR][1000 genomes]
rs2326560	0.81[EUR][1000 genomes]
rs2326561	0.80[EUR][1000 genomes]
rs2875974	0.81[EUR][1000 genomes]
rs4403445	0.80[EUR][1000 genomes]
rs6471885	0.82[EUR][1000 genomes]
rs6471886	0.81[EUR][1000 genomes]
rs67420552	0.81[EUR][1000 genomes]
rs6984378	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6995041	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001696	0.85[EUR][1000 genomes]
rs7822169	0.81[EUR][1000 genomes]
rs7824045	0.82[EUR][1000 genomes]
rs7825612	0.90[EUR][1000 genomes]
rs7827453	0.81[EUR][1000 genomes]
rs7830710	0.90[EUR][1000 genomes]
rs7834395	0.80[EUR][1000 genomes]
rs7839516	0.85[EUR][1000 genomes]
rs7842586	0.82[EUR][1000 genomes]
rs948422	0.85[EUR][1000 genomes]
rs9643523	0.81[EUR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6471875	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61297000-61301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61298600-61300800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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