Variant report

Variant	rs12991020
Chromosome Location	chr2:209810895-209810896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10167720	0.90[EUR][1000 genomes]
rs10178837	0.97[EUR][1000 genomes]
rs10186320	0.98[EUR][1000 genomes]
rs10192840	0.98[EUR][1000 genomes]
rs10497912	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10497913	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497914	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497915	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497916	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497917	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1107012	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11884061	0.98[EUR][1000 genomes]
rs11884074	0.98[EUR][1000 genomes]
rs12464172	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007238	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018777	0.93[EUR][1000 genomes]
rs13019486	0.98[EUR][1000 genomes]
rs13021774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13024347	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13025032	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025499	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13026927	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13029761	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13411078	0.98[EUR][1000 genomes]
rs1357247	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1357248	0.98[EUR][1000 genomes]
rs1402996	0.94[EUR][1000 genomes]
rs1402999	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522201	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522202	0.97[EUR][1000 genomes]
rs16842022	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842024	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842028	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842029	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842030	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842036	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842052	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842053	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842199	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16842268	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16842299	0.87[EUR][1000 genomes]
rs16842371	0.95[YRI][hapmap]
rs1818784	0.98[EUR][1000 genomes]
rs1829708	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1851368	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949689	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1969381	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2364697	0.98[EUR][1000 genomes]
rs2886146	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2886148	0.98[EUR][1000 genomes]
rs34227926	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34326398	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34578232	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35179183	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35245441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35251783	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851939	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851940	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851941	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3863854	0.98[EUR][1000 genomes]
rs3914935	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3914937	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4109419	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4366838	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5002645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56335750	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58821250	0.87[EUR][1000 genomes]
rs66515766	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717179	0.94[EUR][1000 genomes]
rs71409838	0.98[EUR][1000 genomes]
rs72989312	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73064322	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7559978	0.97[EUR][1000 genomes]
rs7580198	0.98[EUR][1000 genomes]
rs7588985	0.88[EUR][1000 genomes]
rs7599045	0.98[EUR][1000 genomes]
rs7606381	0.98[EUR][1000 genomes]
rs883049	0.94[EUR][1000 genomes]
rs939848	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9646841	0.87[EUR][1000 genomes]
rs9989816	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460058	chr2:209755059-209866395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584306	chr2:209755059-209866395	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3487576	chr2:209768379-209947296	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3487577	chr2:209768379-209947296	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209810800-209811200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:209810800-209811200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:209810800-209811200	Enhancers	NHEK	skin

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