Variant report

Variant	rs2105460
Chromosome Location	chr1:45692337-45692338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45691563..45694717-chr1:45695097..45699805,4	K562	blood:
2	chr1:45691956..45694717-chr1:45696399..45699805,3	K562	blood:

Variant related genes	Relation type
ENSG00000221707	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1152028	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226732	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226750	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1612575	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173208	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1969084	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995403	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346685	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346686	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346688	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346689	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346692	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346703	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346704	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346709	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346710	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346711	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346718	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346720	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346725	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346726	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346730	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346732	0.88[AFR][1000 genomes]
rs409082	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs412055	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415614	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4660835	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55826381	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55842174	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55884892	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57805650	0.82[ASN][1000 genomes]
rs60506423	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61574129	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429556	0.87[ASN][1000 genomes]
rs6693885	0.87[ASN][1000 genomes]
rs72684447	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684454	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684481	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684482	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684485	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684487	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684488	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72684496	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72684499	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72686404	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72686415	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686418	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686419	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686420	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686421	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686423	0.91[AMR][1000 genomes];0.96[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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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