Variant report

Variant	rs4650588
Chromosome Location	chr1:78658635-78658636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1570443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1570444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101412	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101443	0.89[AFR][1000 genomes]
rs17101479	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101491	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17389676	0.93[EUR][1000 genomes]
rs17390321	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17392688	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2351911	0.93[EUR][1000 genomes]
rs4650379	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650453	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650514	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650584	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650624	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7364565	0.86[EUR][1000 genomes]
rs7365402	0.86[EUR][1000 genomes]
rs7367149	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1000388	chr1:78638946-78665285	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv520237	chr1:78639244-78660123	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv1544	chr1:78648491-78660972	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv819341	chr1:78649267-78659589	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv546598	chr1:78649862-78659621	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	nsv546599	chr1:78649862-78660123	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv546600	chr1:78649862-78666990	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv546604	chr1:78650021-78659621	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv546605	chr1:78650021-78660123	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv546611	chr1:78650249-78659621	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78656600-78668800	Weak transcription	Liver	Liver
2	chr1:78657600-78667200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:78657600-78669600	Weak transcription	Pancreas	Pancrea

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