Variant report

Variant	rs12813417
Chromosome Location	chr12:30039395-30039396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10843534	1.00[AFR][1000 genomes]
rs10843545	1.00[AFR][1000 genomes]
rs11050512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050515	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050518	1.00[AFR][1000 genomes]
rs11050519	1.00[AFR][1000 genomes]
rs11050525	1.00[AFR][1000 genomes]
rs11050526	1.00[AFR][1000 genomes]
rs11050528	1.00[AFR][1000 genomes]
rs11050536	1.00[AFR][1000 genomes]
rs11050537	1.00[AFR][1000 genomes]
rs11050538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050547	0.82[EUR][1000 genomes]
rs12809939	1.00[AFR][1000 genomes]
rs12811388	1.00[AFR][1000 genomes]
rs12811985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812577	1.00[AFR][1000 genomes]
rs12813154	1.00[AFR][1000 genomes]
rs12821024	1.00[AFR][1000 genomes]
rs12821165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821746	1.00[AFR][1000 genomes]
rs12822092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825788	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12825871	0.82[EUR][1000 genomes]
rs12826590	1.00[AFR][1000 genomes]
rs1466545	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200275	1.00[AFR][1000 genomes]
rs2220131	1.00[AFR][1000 genomes]
rs416697	1.00[AFR][1000 genomes]
rs444711	1.00[AFR][1000 genomes]
rs7132449	1.00[AFR][1000 genomes]
rs7133117	1.00[AFR][1000 genomes]
rs7962909	1.00[AFR][1000 genomes]
rs7967292	1.00[AMR][1000 genomes];1.00[ASN][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30037000-30039400	Weak transcription	Fetal Heart	heart
2	chr12:30037800-30049400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:30038800-30039800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:30039000-30039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:30039200-30039400	Enhancers	Aorta	Aorta

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