Variant report

Variant	rs12291838
Chromosome Location	chr11:67307457-67307458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11227829	1.00[AMR][1000 genomes]
rs12270939	1.00[AMR][1000 genomes]
rs12271238	1.00[AMR][1000 genomes]
rs12273818	1.00[AMR][1000 genomes]
rs12274182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277603	1.00[AMR][1000 genomes]
rs12280141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283583	0.88[AFR][1000 genomes]
rs12285294	1.00[AMR][1000 genomes]
rs12287042	1.00[AMR][1000 genomes]
rs12292686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591248	1.00[AMR][1000 genomes]
rs8191431	1.00[AMR][1000 genomes]
rs8191448	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
8	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67301400-67310800	Weak transcription	Pancreas	Pancrea
2	chr11:67305200-67312200	Weak transcription	Right Ventricle	heart
3	chr11:67306400-67308000	Enhancers	K562	blood
4	chr11:67306600-67308000	Enhancers	HepG2	liver
5	chr11:67306600-67309000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:67307000-67308800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:67307000-67310200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:67307000-67310800	Weak transcription	Colonic Mucosa	Colon
9	chr11:67307000-67312400	Weak transcription	Esophagus	oesophagus
10	chr11:67307200-67311800	Weak transcription	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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