Variant report

Variant	rs6542029
Chromosome Location	chr2:126757757-126757758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11690490	0.93[EUR][1000 genomes]
rs11693289	0.83[EUR][1000 genomes]
rs11696084	0.94[EUR][1000 genomes]
rs17695513	0.81[AMR][1000 genomes]
rs1869745	0.83[EUR][1000 genomes]
rs55649616	0.83[EUR][1000 genomes]
rs55748091	0.83[EUR][1000 genomes]
rs55977060	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56094082	0.81[EUR][1000 genomes]
rs56119302	0.83[EUR][1000 genomes]
rs56155371	0.83[EUR][1000 genomes]
rs56211536	0.83[EUR][1000 genomes]
rs56217723	0.83[EUR][1000 genomes]
rs56356855	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72845326	0.83[EUR][1000 genomes]
rs72845328	0.83[EUR][1000 genomes]
rs72845329	0.83[EUR][1000 genomes]
rs72845330	0.83[EUR][1000 genomes]
rs72845332	0.83[EUR][1000 genomes]
rs72845333	0.83[EUR][1000 genomes]
rs72845335	0.83[EUR][1000 genomes]
rs72845336	0.83[EUR][1000 genomes]
rs72845337	0.81[EUR][1000 genomes]
rs72845341	0.81[EUR][1000 genomes]
rs72845345	0.83[EUR][1000 genomes]
rs72845348	0.83[EUR][1000 genomes]
rs72845351	0.83[EUR][1000 genomes]
rs72845355	0.83[EUR][1000 genomes]
rs72845358	0.82[EUR][1000 genomes]
rs72845359	0.83[EUR][1000 genomes]
rs72845370	0.84[EUR][1000 genomes]
rs72853517	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72862404	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72862424	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72862425	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72862434	0.81[AMR][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	nsv1000070	chr2:126138320-126915275	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv583009	chr2:126662415-126759423	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv834363	chr2:126696445-126887859	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6542029	ERCC3	cis	parietal	SCAN
rs6542029	SFT2D3	cis	cerebellum	SCAN
rs6542029	DARC	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126757200-126758200	Weak transcription	Fetal Heart	heart

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