Variant report

Variant	rs616518
Chromosome Location	chr1:78658092-78658093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1022103	0.86[ASN][1000 genomes]
rs10873966	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162415	0.93[ASN][1000 genomes]
rs11162417	0.88[ASN][1000 genomes]
rs11162418	0.81[EUR][1000 genomes]
rs11162425	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162429	1.00[ASN][1000 genomes]
rs11579434	0.93[ASN][1000 genomes]
rs12083265	0.81[EUR][1000 genomes]
rs12095545	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131414	0.81[EUR][1000 genomes]
rs12184300	0.99[ASN][1000 genomes]
rs12749252	0.81[EUR][1000 genomes]
rs12758374	0.86[ASN][1000 genomes]
rs1323094	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359043	0.81[EUR][1000 genomes]
rs1621088	0.81[EUR][1000 genomes]
rs1770303	0.81[EUR][1000 genomes]
rs1770306	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1770311	0.81[EUR][1000 genomes]
rs1770313	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1890850	1.00[ASN][1000 genomes]
rs2025610	0.81[EUR][1000 genomes]
rs2025611	0.82[EUR][1000 genomes]
rs2146612	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2208966	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2209472	0.80[EUR][1000 genomes]
rs2351909	0.81[EUR][1000 genomes]
rs2351910	0.81[EUR][1000 genomes]
rs2882796	0.81[EUR][1000 genomes]
rs4529663	0.81[EUR][1000 genomes]
rs4587522	0.80[EUR][1000 genomes]
rs4650382	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650619	0.90[ASN][1000 genomes]
rs4650620	0.89[ASN][1000 genomes]
rs581926	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58611517	0.80[EUR][1000 genomes]
rs596803	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs599386	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs600237	0.82[EUR][1000 genomes]
rs61777350	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs619749	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs627493	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs627549	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs638232	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640124	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs649502	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs653899	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658377	0.81[EUR][1000 genomes]
rs669357	0.81[EUR][1000 genomes]
rs669764	0.80[EUR][1000 genomes]
rs671229	0.82[EUR][1000 genomes]
rs672620	0.81[EUR][1000 genomes]
rs680143	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs688570	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs689374	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688712	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7524877	0.93[ASN][1000 genomes]
rs7532752	0.81[EUR][1000 genomes]
rs7555504	0.80[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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