Variant report

Variant	rs12083547
Chromosome Location	chr1:166205880-166205881
allele	A/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:37)

rs_ID	r²[population]
rs10494456	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10753713	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10753714	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10800201	0.87[EUR][1000 genomes]
rs10800202	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10918386	0.87[EUR][1000 genomes]
rs10918387	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10918388	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10918401	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10918403	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10918405	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10918406	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12028067	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12097110	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12760939	0.88[EUR][1000 genomes]
rs1349526	0.85[EUR][1000 genomes]
rs1349527	0.85[EUR][1000 genomes]
rs1451600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451606	0.87[EUR][1000 genomes]
rs1560570	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16856734	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28568389	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4147072	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4378185	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4391646	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4556335	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56132740	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61835144	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61835149	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61835150	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61835151	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6658248	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6658513	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6687444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552225	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs896403	0.86[EUR][1000 genomes]
rs896404	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1012972	chr1:166166695-166206473	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1009639	chr1:166174369-166222405	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv998231	chr1:166174516-166228386	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166204800-166207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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