Variant report

Variant	rs12580209
Chromosome Location	chr12:30511997-30511998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10082751	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10082827	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs10083054	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs10506066	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10843729	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050819	0.94[CEU][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs11050839	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050841	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050842	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050843	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050844	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050845	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050846	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050855	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050856	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050857	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11833825	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11836218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578733	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579259	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579317	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12579379	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12579517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580203	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580501	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581209	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12582064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12582079	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12582654	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12582684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320922	0.94[CEU][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs1320923	0.94[CEU][hapmap]
rs1320925	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs1429622	1.00[CEU][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs1612581	0.92[CEU][hapmap]
rs1652138	0.87[CEU][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs1652184	0.93[CEU][hapmap];0.87[JPT][hapmap]
rs16906211	0.82[AMR][1000 genomes]
rs16906270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906271	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906306	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1731490	0.94[CEU][hapmap]
rs1731491	0.94[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap]
rs1731492	0.94[CEU][hapmap]
rs17464127	1.00[CEU][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap]
rs17525182	0.81[AMR][1000 genomes]
rs1827905	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1827906	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1881930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700023	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2703370	0.87[JPT][hapmap]
rs354128	0.95[EUR][1000 genomes]
rs35751841	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487902	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7138814	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7139058	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7139191	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7139306	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7299777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962895	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30510200-30512400	Enhancers	Fetal Lung	lung
2	chr12:30510600-30512200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:30510800-30512000	Enhancers	Right Atrium	heart
4	chr12:30510800-30512400	Enhancers	Fetal Heart	heart
5	chr12:30511200-30512000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30511200-30512000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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