Variant report

Variant	rs11831546
Chromosome Location	chr12:11586163-11586164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10845351	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11054281	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11054283	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11054284	0.91[AMR][1000 genomes]
rs11054285	0.91[AMR][1000 genomes]
rs11054293	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12320635	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2204839	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2951783	0.87[MKK][hapmap]
rs3983929	0.91[AMR][1000 genomes]
rs4237932	0.87[MKK][hapmap]
rs4569088	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7134383	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7297365	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73273708	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73289407	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7963557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964716	0.82[AMR][1000 genomes]
rs9971635	0.91[AMR][1000 genomes]
rs9971798	0.91[AMR][1000 genomes]
rs9971894	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11584600-11586200	Enhancers	GM12878-XiMat	blood
2	chr12:11585200-11586800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:11585800-11586800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:11585800-11587000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:11586000-11587200	Weak transcription	Stomach Mucosa	stomach

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