Variant report

Variant	rs11054293
Chromosome Location	chr12:11576147-11576148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10845351	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11054281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11054283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11054284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11054285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831546	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12320635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2204839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297365	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73273708	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289407	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7962291	0.83[AMR][1000 genomes]
rs7963557	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7964716	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7977628	0.83[AMR][1000 genomes]
rs9971635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971894	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1040560	chr12:11370919-11588024	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1040405	chr12:11370919-11613675	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1813940	chr12:11473416-11581744	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2830224	chr12:11481057-11608776	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1036331	chr12:11493164-11581762	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1802030	chr12:11500045-11578537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1831633	chr12:11500045-11578537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv976576	chr12:11501935-11576673	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1844075	chr12:11501986-11586241	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv898801	chr12:11503269-11585380	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1813650	chr12:11505582-11581744	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1849715	chr12:11507352-11585414	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv557550	chr12:11509295-11585380	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1037113	chr12:11512480-11589497	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1814802	chr12:11523078-11595392	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1807638	chr12:11544595-11586241	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11570000-11579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:11575800-11576200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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