Variant report

Variant	rs7649614
Chromosome Location	chr3:143789028-143789029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1025984	0.85[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap]
rs10513235	1.00[GIH][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap]
rs11924473	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067695	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13068298	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13078840	1.00[GIH][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap]
rs13081286	0.85[CHB][hapmap]
rs13086088	0.85[CHB][hapmap]
rs13091882	0.81[EUR][1000 genomes]
rs1466941	0.93[GIH][hapmap]
rs16854884	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16854886	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961542	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1979910	0.86[GIH][hapmap]
rs2164554	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2370171	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34379944	0.80[ASN][1000 genomes]
rs34639473	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34730687	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35629416	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35788195	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35796781	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35887108	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35959290	0.81[ASN][1000 genomes]
rs56196484	0.90[ASN][1000 genomes]
rs58251824	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62268458	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62269933	0.85[EUR][1000 genomes]
rs6440210	0.93[GIH][hapmap]
rs6767236	0.90[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6782024	0.80[EUR][1000 genomes]
rs6784938	0.82[EUR][1000 genomes]
rs6786460	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs6804060	0.84[CEU][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs7610378	0.90[GIH][hapmap]
rs7621079	0.81[EUR][1000 genomes]
rs7621093	0.81[EUR][1000 genomes]
rs7634145	0.85[CHB][hapmap]
rs7637912	0.85[CHB][hapmap]
rs7646187	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7653331	0.82[EUR][1000 genomes]
rs951865	0.81[EUR][1000 genomes]
rs989665	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv877569	chr3:143762420-143825439	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010213	chr3:143775358-143863149	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv591923	chr3:143776096-143862350	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv591924	chr3:143776096-143864780	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1008414	chr3:143779087-143853396	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7649614	C3orf58	cis	parietal	SCAN
rs7649614	C3orf58	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143788600-143789600	Weak transcription	HSMMtube	muscle

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