Variant report

Variant	rs72911800
Chromosome Location	chr2:189029300-189029301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10931328	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931329	0.81[ASN][1000 genomes]
rs10931330	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931331	0.84[EUR][1000 genomes]
rs10931332	0.81[ASN][1000 genomes]
rs10931333	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10931334	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931336	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11682297	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684826	0.89[ASN][1000 genomes]
rs11687382	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468413	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12992671	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12995107	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12995166	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13003679	0.81[EUR][1000 genomes]
rs13005325	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13011049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13015608	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13017543	0.81[ASN][1000 genomes]
rs13022215	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023212	0.88[EUR][1000 genomes]
rs13027011	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13027148	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13027220	0.81[EUR][1000 genomes]
rs13027989	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13029662	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13035864	0.89[ASN][1000 genomes]
rs1439900	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1439901	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1439903	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1439904	0.81[ASN][1000 genomes]
rs1821998	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2043946	0.81[ASN][1000 genomes]
rs2350566	0.83[ASN][1000 genomes]
rs2350569	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2882449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34142137	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34395949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34484855	0.83[EUR][1000 genomes]
rs34555222	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34699014	0.80[EUR][1000 genomes]
rs34836837	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35113537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35143496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35355034	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35699394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666757	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4667213	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58176375	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179560	0.81[ASN][1000 genomes]
rs6715740	0.89[ASN][1000 genomes]
rs6738105	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6744309	0.89[ASN][1000 genomes]
rs6745829	0.81[ASN][1000 genomes]
rs6749283	0.81[ASN][1000 genomes]
rs6749627	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6756131	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67804711	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68028976	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72901602	0.83[EUR][1000 genomes]
rs72909886	0.80[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	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521460	chr2:189025977-189046900	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv821855	chr2:189029114-189029572	Strong transcription ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189025800-189030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189026000-189029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:189028600-189031200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:189029000-189030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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