Variant report

Variant	rs72686404
Chromosome Location	chr1:45677960-45677961
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45670740..45673422-chr1:45677791..45680417,3	MCF-7	breast:
2	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
3	chr1:45477032..45479742-chr1:45677347..45679240,2	MCF-7	breast:
4	chr1:45670926..45673007-chr1:45675469..45678424,2	MCF-7	breast:
5	chr1:45677297..45679517-chr1:45681226..45684124,2	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000162415	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10157175	0.84[AMR][1000 genomes]
rs10157807	0.84[AMR][1000 genomes]
rs1152028	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809934	0.84[AMR][1000 genomes]
rs11810829	0.84[AMR][1000 genomes]
rs1226732	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226750	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612575	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173208	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969084	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995403	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105460	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346685	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346686	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346688	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346689	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346692	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346703	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346704	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346709	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346710	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346711	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346718	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346720	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346725	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346726	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346730	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346735	0.80[AFR][1000 genomes]
rs409082	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412055	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415614	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660835	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55826381	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55842174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55996819	0.84[AMR][1000 genomes]
rs56165953	0.84[AMR][1000 genomes]
rs57805650	0.84[ASN][1000 genomes]
rs60506423	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61574129	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429556	0.89[ASN][1000 genomes]
rs6693885	0.89[ASN][1000 genomes]
rs72684425	0.81[ASN][1000 genomes]
rs72684426	0.81[ASN][1000 genomes]
rs72684447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684454	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684482	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684488	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72684499	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686415	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686418	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686419	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686420	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686421	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686423	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686425	0.84[AMR][1000 genomes]
rs72686431	0.84[AMR][1000 genomes]
rs72686433	0.84[AMR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45673800-45678000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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