Variant report

Variant	rs4714152
Chromosome Location	chr6:38343341-38343342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs12191714	1.00[JPT][hapmap]
rs12206324	1.00[JPT][hapmap]
rs12206905	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12212983	1.00[JPT][hapmap]
rs12215850	1.00[JPT][hapmap]
rs1883610	0.86[JPT][hapmap]
rs1983605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294739	0.87[EUR][1000 genomes]
rs28445226	1.00[JPT][hapmap]
rs4140443	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4236058	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4711538	0.87[EUR][1000 genomes]
rs4711540	0.84[EUR][1000 genomes]
rs4711541	0.95[EUR][1000 genomes]
rs4711542	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4711543	0.96[EUR][1000 genomes]
rs4711544	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs4711546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714148	0.88[CHD][hapmap]
rs4714151	0.86[EUR][1000 genomes]
rs4714153	0.97[EUR][1000 genomes]
rs4714155	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4714156	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs4714157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714158	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4714165	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs58424668	0.85[EUR][1000 genomes]
rs58807047	0.85[EUR][1000 genomes]
rs6458051	0.84[ASN][1000 genomes]
rs6899746	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6901086	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6903060	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6903611	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6903767	0.83[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6904723	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6923701	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6933758	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6940319	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs742515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743023	0.97[EUR][1000 genomes]
rs7748599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755429	0.84[ASN][1000 genomes]
rs7756267	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7759078	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs7759629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764502	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7766214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770868	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs871183	1.00[JPT][hapmap]
rs9296248	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9296249	1.00[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs9349073	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9349076	0.94[EUR][1000 genomes]
rs9349077	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs9349078	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349079	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357269	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9357270	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9357271	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9357272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366957	0.82[EUR][1000 genomes]
rs9366959	0.96[EUR][1000 genomes]
rs9366960	0.96[EUR][1000 genomes]
rs9369055	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs9369057	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs9380740	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs9380741	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs9380742	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9380743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380745	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs9380747	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9394492	0.88[CHD][hapmap]
rs9394493	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9394494	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs9394495	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9470865	0.97[EUR][1000 genomes]
rs9470867	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470868	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470874	0.93[EUR][1000 genomes]
rs9470885	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9470888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9470891	0.88[CHD][hapmap];1.00[JPT][hapmap]

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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4714152	KCNK5	cis	cerebellum	SCAN
rs4714152	PACSIN1	cis	cerebellum	SCAN
rs4714152	NFYA	cis	parietal	SCAN
rs4714152	GLO1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38339400-38348200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:38340000-38344000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:38342200-38343400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:38342600-38343400	Enhancers	HSMMtube	muscle
5	chr6:38343000-38343400	Enhancers	NHDF-Ad	bronchial
6	chr6:38343000-38367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links