Variant report

Variant	rs1332844
Chromosome Location	chr6:12889004-12889005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1014342	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap]
rs12526453	0.88[CEU][hapmap]
rs12530250	0.87[EUR][1000 genomes]
rs13197912	0.88[EUR][1000 genomes]
rs13208248	0.82[EUR][1000 genomes]
rs1953088	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2327620	0.97[EUR][1000 genomes]
rs2327621	0.92[CEU][hapmap]
rs2876302	0.89[EUR][1000 genomes]
rs2876303	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs4711863	0.92[CEU][hapmap]
rs4714955	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4714990	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs62389955	0.89[EUR][1000 genomes]
rs6458545	0.92[CEU][hapmap]
rs6911226	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6915983	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6925904	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7454157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs7739181	0.92[CEU][hapmap]
rs7750679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7751826	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7760016	1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs7760527	0.97[EUR][1000 genomes]
rs8180558	0.92[CEU][hapmap]
rs9296512	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9349372	0.82[ASN][1000 genomes]
rs9369640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9381494	0.94[EUR][1000 genomes]
rs9381500	0.92[CEU][hapmap]
rs9395214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Coronary heart disease	21378988	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12885600-12891800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:12885600-12908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:12887600-12892000	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:12887600-12893800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:12887800-12892800	Weak transcription	NHDF-Ad	bronchial
6	chr6:12889000-12889200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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