Variant report

Variant	rs7125634
Chromosome Location	chr11:16225741-16225742
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	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
2	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10832552	0.85[ASN][1000 genomes]
rs10832555	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10832556	0.92[EUR][1000 genomes]
rs10832557	0.92[EUR][1000 genomes]
rs11023859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11023860	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs1349984	0.90[EUR][1000 genomes]
rs1349985	0.90[EUR][1000 genomes]
rs1349986	0.87[EUR][1000 genomes]
rs1356647	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs1378305	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1455103	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1455104	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1455109	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1455111	0.96[CEU][hapmap];0.83[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs1455113	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1455114	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1455115	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1455117	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1455118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1914875	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1949482	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1949483	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2014828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2054095	0.91[EUR][1000 genomes]
rs2124202	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2168253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3903292	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4617548	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4620684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6486276	0.90[EUR][1000 genomes]
rs6486277	0.91[EUR][1000 genomes]
rs6486278	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs6486279	0.91[EUR][1000 genomes]
rs7102224	0.91[EUR][1000 genomes]
rs7108091	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs7112473	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7114017	0.91[EUR][1000 genomes]
rs7118395	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs7131157	0.86[EUR][1000 genomes]
rs7926424	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7931734	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7941496	0.92[CEU][hapmap];0.98[TSI][hapmap]
rs7950736	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs9651573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs978294	0.96[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv897012	chr11:16189326-16283644	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv553563	chr11:16206658-16259405	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv897014	chr11:16211343-16283644	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv467710	chr11:16219341-16266740	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv553564	chr11:16219341-16266740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv553565	chr11:16220289-16307700	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7125634	DKFZp686O24166	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16218400-16225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:16224400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16225200-16227000	Enhancers	Fetal Heart	heart
4	chr11:16225400-16226800	Enhancers	HepG2	liver

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