Variant report

Variant	rs72684485
Chromosome Location	chr1:45660163-45660164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45283372..45285918-chr1:45658749..45661902,3	K562	blood:
2	chr1:45658355..45660758-chr1:45665576..45668120,2	MCF-7	breast:
3	chr1:45477006..45484094-chr1:45656150..45660239,6	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10157175	0.84[AMR][1000 genomes]
rs10157807	0.84[AMR][1000 genomes]
rs1152028	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	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226750	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612575	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	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346689	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346692	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	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346710	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346711	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346718	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346720	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346725	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346726	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]
rs409082	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412055	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	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	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684454	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684482	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72684499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686404	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	0.83[AFR][1000 genomes];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	nsv945918	chr1:45642615-45660743	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45645600-45662600	Weak transcription	HepG2	liver
2	chr1:45654400-45660400	Weak transcription	Fetal Brain Male	brain
3	chr1:45655800-45660800	Weak transcription	Ovary	ovary
4	chr1:45658400-45663600	Weak transcription	HUVEC	blood vessel
5	chr1:45660000-45660200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:45660000-45666400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:45660000-45670800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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