Variant report

Variant	rs374207
Chromosome Location	chr5:4975491-4975492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:4975294-4975616	HepG2	liver:	n/a	chr5:4975455-4975468 chr5:4975455-4975466
2	CEBPB	chr5:4975425-4975608	K562	blood:	n/a	chr5:4975455-4975468 chr5:4975455-4975466

Variant related genes	Relation type
ENSG00000251506	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10038746	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10038747	0.88[EUR][1000 genomes]
rs1035914	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1452027	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs168733	0.82[GIH][hapmap]
rs181822	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs189835	0.89[EUR][1000 genomes]
rs1901498	0.92[EUR][1000 genomes]
rs2399756	0.89[EUR][1000 genomes]
rs249457	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2561719	0.92[EUR][1000 genomes]
rs2561720	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2561721	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2561722	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2600655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30450	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs30451	0.82[GIH][hapmap]
rs30462	0.81[ASN][1000 genomes]
rs30463	0.81[ASN][1000 genomes]
rs30472	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30473	0.84[EUR][1000 genomes]
rs30474	0.90[EUR][1000 genomes]
rs30475	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39586	0.91[EUR][1000 genomes]
rs39850	0.81[ASN][1000 genomes]
rs39853	0.91[EUR][1000 genomes]
rs40468	0.84[EUR][1000 genomes]
rs42400	0.90[EUR][1000 genomes]
rs42401	0.91[EUR][1000 genomes]
rs42545	0.91[EUR][1000 genomes]
rs42546	0.88[EUR][1000 genomes]
rs719183	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9313095	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935857	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935858	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019579	chr5:4557477-4997411	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1028717	chr5:4954566-4993583	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs374207	TERT	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:4970400-4976800	Weak transcription	Fetal Lung	lung
2	chr5:4974200-4976400	Weak transcription	Fetal Kidney	kidney
3	chr5:4974600-4976800	Weak transcription	Pancreas	Pancrea
4	chr5:4975200-4976600	Weak transcription	Ovary	ovary

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