Variant report

Variant	rs12306726
Chromosome Location	chr12:86630277-86630278
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	chr12:86626187..86628759-chr12:86629956..86631967,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10160933	1.00[YRI][hapmap]
rs10506928	0.83[CEU][hapmap]
rs10506931	0.90[CEU][hapmap]
rs10506934	0.92[CEU][hapmap]
rs11103901	1.00[YRI][hapmap]
rs11103902	1.00[YRI][hapmap]
rs11103910	1.00[YRI][hapmap]
rs11103922	0.85[YRI][hapmap]
rs11103937	1.00[YRI][hapmap]
rs11103956	1.00[YRI][hapmap]
rs11830208	0.91[CEU][hapmap]
rs12296316	0.85[YRI][hapmap]
rs12299950	1.00[YRI][hapmap]
rs12304593	0.89[AMR][1000 genomes]
rs12304625	1.00[YRI][hapmap]
rs12305255	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305480	1.00[YRI][hapmap]
rs12307279	0.89[CEU][hapmap]
rs12308711	1.00[YRI][hapmap]
rs12311208	1.00[YRI][hapmap]
rs12311647	1.00[YRI][hapmap]
rs12315617	0.92[CEU][hapmap]
rs12316205	0.85[YRI][hapmap]
rs12316480	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs12318124	1.00[YRI][hapmap]
rs12318366	1.00[YRI][hapmap]
rs12318998	1.00[YRI][hapmap]
rs12321412	1.00[YRI][hapmap]
rs12321784	0.82[YRI][hapmap]
rs1389296	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1552840	0.91[CEU][hapmap]
rs17284129	0.80[EUR][1000 genomes]
rs17284484	0.83[CEU][hapmap]
rs17284820	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs17285589	1.00[CEU][hapmap]
rs17288772	0.85[CEU][hapmap];0.86[AMR][1000 genomes]
rs17288800	0.83[CEU][hapmap]
rs17289052	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs17289087	0.91[CEU][hapmap]
rs17289115	0.91[CEU][hapmap]
rs17289150	0.91[CEU][hapmap]
rs17289178	0.92[CEU][hapmap]
rs17289646	0.91[CEU][hapmap]
rs17357025	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs17357233	0.91[CEU][hapmap]
rs17357259	0.90[CEU][hapmap]
rs17357469	0.91[CEU][hapmap]
rs17359446	0.91[CEU][hapmap];0.94[AMR][1000 genomes]
rs17367374	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs17367869	0.92[CEU][hapmap]
rs17367946	0.91[CEU][hapmap]
rs4842454	1.00[CEU][hapmap]
rs4842468	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4842487	0.88[CEU][hapmap]
rs4842541	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4842557	1.00[CEU][hapmap]
rs4842558	0.91[CEU][hapmap]
rs4842640	0.92[CEU][hapmap]
rs55649116	0.89[AMR][1000 genomes]
rs55733909	0.89[AMR][1000 genomes]
rs55820226	0.84[AMR][1000 genomes]
rs55832610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55886852	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55956857	0.83[AMR][1000 genomes]
rs55998036	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57624840	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58024273	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59623111	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61931157	0.80[EUR][1000 genomes]
rs61932269	0.82[EUR][1000 genomes]
rs61932270	0.83[EUR][1000 genomes]
rs61932271	0.83[EUR][1000 genomes]
rs61932272	0.83[EUR][1000 genomes]
rs61932274	0.83[EUR][1000 genomes]
rs61932275	0.83[EUR][1000 genomes]
rs61948967	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61948994	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949011	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61949013	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949036	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949037	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949038	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61949039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61949041	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949045	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61949047	0.91[AMR][1000 genomes]
rs61949048	0.89[AMR][1000 genomes]
rs61949049	0.89[AMR][1000 genomes]
rs61950663	0.89[AMR][1000 genomes]
rs61950665	0.89[AMR][1000 genomes]
rs61950667	0.83[AMR][1000 genomes]
rs61950671	0.83[AMR][1000 genomes]
rs61950674	0.83[AMR][1000 genomes]
rs61950706	0.81[AMR][1000 genomes]
rs61950711	0.86[AMR][1000 genomes]
rs61950712	0.84[AMR][1000 genomes]
rs61950713	0.86[AMR][1000 genomes]
rs7487426	0.82[CEU][hapmap]
rs767898	0.94[AMR][1000 genomes]
rs9971936	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86628400-86631600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:86629200-86630600	Enhancers	Fetal Heart	heart
3	chr12:86630200-86630400	Enhancers	Cortex derived primary cultured neurospheres	brain

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