Variant report

Variant	rs12424849
Chromosome Location	chr12:30412040-30412041
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10843678	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843679	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10843682	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843683	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843685	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10843688	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10843695	0.82[AMR][1000 genomes]
rs10843696	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11050728	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050743	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050746	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050748	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050749	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050751	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050753	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11050755	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050756	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11050757	0.82[AMR][1000 genomes]
rs11050758	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11050759	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11050764	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050765	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050776	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11050785	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11050798	0.86[AFR][1000 genomes]
rs1114543	0.82[AMR][1000 genomes]
rs1485419	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1594226	0.84[AMR][1000 genomes]
rs1731487	0.82[AMR][1000 genomes]
rs1731488	0.82[AMR][1000 genomes]
rs1731512	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17522050	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1820886	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1835255	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1896900	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1960779	0.83[AMR][1000 genomes]
rs2082063	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2082064	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195539	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2564552	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34426025	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4031705	0.83[AMR][1000 genomes]
rs4143645	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4457837	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930915	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4931304	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4931306	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931311	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4931316	0.83[AMR][1000 genomes]
rs59104050	0.81[EUR][1000 genomes]
rs59708543	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61015779	0.87[ASN][1000 genomes]
rs765116	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs765119	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7959978	0.83[AMR][1000 genomes]
rs7960086	0.83[AMR][1000 genomes]
rs7974720	0.83[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	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv430465	chr12:30377630-30422833	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30409200-30416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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