Variant report

Variant	rs11612070
Chromosome Location	chr12:59401761-59401762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10783931	0.88[EUR][1000 genomes]
rs1155734	0.88[EUR][1000 genomes]
rs1155736	0.88[EUR][1000 genomes]
rs1155737	0.88[EUR][1000 genomes]
rs11613145	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613854	0.88[EUR][1000 genomes]
rs11835541	0.88[EUR][1000 genomes]
rs1355469	0.88[EUR][1000 genomes]
rs1373356	0.88[EUR][1000 genomes]
rs1436665	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1444101	0.88[EUR][1000 genomes]
rs17121797	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121877	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17121905	0.88[EUR][1000 genomes]
rs17536158	0.81[EUR][1000 genomes]
rs2371980	0.88[EUR][1000 genomes]
rs4760253	0.88[EUR][1000 genomes]
rs55794853	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042852	0.80[EUR][1000 genomes]
rs59263143	0.81[EUR][1000 genomes]
rs74091486	0.88[EUR][1000 genomes]
rs7978931	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668093	0.81[EUR][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1804108	chr12:59398014-59403387	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59399600-59408400	Weak transcription	Psoas Muscle	Psoas
2	chr12:59401000-59402000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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