Variant report

Variant	rs12368648
Chromosome Location	chr12:30290256-30290257
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10771638	0.88[EUR][1000 genomes]
rs10843617	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10843619	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843620	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050669	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11050670	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050673	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11050674	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050675	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12366875	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1385562	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1385563	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1552342	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1552343	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1552344	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1909182	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1909183	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2171038	0.87[EUR][1000 genomes]
rs2200410	0.87[EUR][1000 genomes]
rs2200412	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3959917	0.88[EUR][1000 genomes]
rs4930885	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930886	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930888	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4931264	0.88[EUR][1000 genomes]
rs4931265	0.88[EUR][1000 genomes]
rs4931266	0.88[EUR][1000 genomes]
rs4931268	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7299613	0.87[EUR][1000 genomes]
rs7313801	0.87[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	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv19189	chr12:30290207-30296633	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30285800-30291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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