Variant report

Variant	rs12137353
Chromosome Location	chr1:193300991-193300992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap]
rs10801186	1.00[CEU][hapmap]
rs10921331	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12116651	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117877	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap]
rs12122868	1.00[CEU][hapmap]
rs12130838	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12133955	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap]
rs12140787	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap]
rs12141455	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145101	0.85[CEU][hapmap]
rs12145609	1.00[AFR][1000 genomes]
rs1325196	1.00[CEU][hapmap]
rs17526825	1.00[CEU][hapmap]
rs17528639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17529089	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap]
rs17593120	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes];0.95[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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742104	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72742110	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742114	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742119	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742120	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs817137	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193297200-193303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:193297800-193301200	Weak transcription	Pancreas	Pancrea

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