Variant report

Variant	rs11957260
Chromosome Location	chr5:74608732-74608733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74606664..74608899-chr5:74628244..74629786,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10045497	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10070119	0.89[EUR][1000 genomes]
rs10474433	0.89[GIH][hapmap]
rs10942734	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11749783	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12654264	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs12916	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1423527	0.90[EUR][1000 genomes]
rs2112653	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2126736	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs2335418	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2878417	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3843480	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3843481	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3846662	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs3846663	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4549504	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap]
rs4703667	0.91[ASN][1000 genomes]
rs4704200	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704202	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6871667	0.84[EUR][1000 genomes]
rs6878990	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap]
rs6892023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702895	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7703051	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7722186	0.89[EUR][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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11957260	HMGCR	cis	parietal	SCAN
rs11957260	HMGCR	cis	cerebellum	SCAN
rs11957260	POC5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74607800-74615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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