Variant report

Variant	rs60785285
Chromosome Location	chr1:47404995-47404996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs45527338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45568538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4660984	1.00[AMR][1000 genomes]
rs56716388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437494	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58501789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58867903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284575	1.00[AMR][1000 genomes]
rs6692757	1.00[AMR][1000 genomes]
rs72886530	1.00[AMR][1000 genomes]
rs72888469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890348	1.00[AMR][1000 genomes]
rs72890351	1.00[AMR][1000 genomes]
rs72890355	1.00[AMR][1000 genomes]
rs7522638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv945928	chr1:47392738-47414613	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47403200-47406000	Weak transcription	Pancreas	Pancrea
2	chr1:47404000-47406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:47404000-47406400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:47404600-47405800	Flanking Active TSS	Liver	Liver

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