Variant report

Variant	rs12649011
Chromosome Location	chr4:85057345-85057346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10000976	0.80[AMR][1000 genomes]
rs10003808	0.80[AMR][1000 genomes]
rs10516709	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11099635	0.81[AMR][1000 genomes]
rs12643400	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644347	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12648456	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12651174	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1317011	0.86[AMR][1000 genomes]
rs17008059	0.88[AMR][1000 genomes]
rs17008168	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882385	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1882388	0.81[AMR][1000 genomes]
rs1882389	0.88[AMR][1000 genomes]
rs1921861	0.87[AMR][1000 genomes]
rs1997478	0.83[CHB][hapmap]
rs2003082	0.81[AMR][1000 genomes]
rs2178604	0.83[CHB][hapmap]
rs2868869	0.84[AMR][1000 genomes]
rs2868871	0.87[AMR][1000 genomes]
rs2868874	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2868875	0.83[CHB][hapmap]
rs5017999	0.81[EUR][1000 genomes]
rs62301631	0.87[AMR][1000 genomes]
rs62301632	0.88[AMR][1000 genomes]
rs62301635	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72613139	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72613140	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916422	chr4:84965304-85145657	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv524354	chr4:85006975-85215142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv829996	chr4:85016673-85173300	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508294	chr4:85035979-85073816	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2760872	chr4:85054481-85066641	Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
7	nsv879514	chr4:85057124-85272572	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85057000-85057600	Active TSS	Aorta	Aorta

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