Variant report

Variant	rs2351911
Chromosome Location	chr1:78644676-78644677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1570443	0.93[EUR][1000 genomes]
rs1570444	0.93[EUR][1000 genomes]
rs17101412	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17101479	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17101491	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17389676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17390321	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17392688	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650379	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650453	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650514	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650584	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650585	0.93[EUR][1000 genomes]
rs4650588	0.93[EUR][1000 genomes]
rs4650609	0.93[EUR][1000 genomes]
rs4650624	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7364565	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7365402	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7367149	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7367922	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1000388	chr1:78638946-78665285	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv520237	chr1:78639244-78660123	Enhancers Weak transcription ZNF genes & repeats	TF binding region	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	chr1:78635000-78646200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:78641800-78645200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:78644400-78644800	Enhancers	Pancreas	Pancrea

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