Variant report

Variant	rs12116651
Chromosome Location	chr1:193332024-193332025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193326973..193328579-chr1:193331886..193334879,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap]
rs10801186	1.00[CEU][hapmap]
rs10921331	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12117877	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap]
rs12122868	1.00[CEU][hapmap]
rs12130838	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12133955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap]
rs12137353	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12140787	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145609	1.00[AFR][1000 genomes]
rs1325196	1.00[CEU][hapmap]
rs17528639	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17529089	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17593120	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28930673	1.00[CEU][hapmap]
rs28930674	1.00[CEU][hapmap]
rs528790	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap]
rs6685991	1.00[AFR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes]
rs72740270	0.80[EUR][1000 genomes]
rs72740276	1.00[AFR][1000 genomes]
rs72740302	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742104	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72742110	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742114	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742119	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742120	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs817137	0.80[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	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung
2	chr1:193332000-193337000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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