Variant report

Variant	rs12461438
Chromosome Location	chr19:53737842-53737843
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10401780	1.00[EUR][1000 genomes]
rs10402388	1.00[EUR][1000 genomes]
rs10410619	1.00[EUR][1000 genomes]
rs10419621	1.00[EUR][1000 genomes]
rs10421203	1.00[EUR][1000 genomes]
rs10425706	1.00[EUR][1000 genomes]
rs12461512	1.00[EUR][1000 genomes]
rs1550578	1.00[EUR][1000 genomes]
rs16984370	1.00[EUR][1000 genomes]
rs16984442	1.00[EUR][1000 genomes]
rs16984466	1.00[EUR][1000 genomes]
rs16984581	1.00[EUR][1000 genomes]
rs16984609	1.00[EUR][1000 genomes]
rs28536702	1.00[EUR][1000 genomes]
rs28668048	1.00[EUR][1000 genomes]
rs28670871	1.00[EUR][1000 genomes]
rs57441999	1.00[EUR][1000 genomes]
rs57583034	1.00[EUR][1000 genomes]
rs61729686	1.00[EUR][1000 genomes]
rs7254587	1.00[EUR][1000 genomes]
rs73590735	1.00[EUR][1000 genomes]
rs73599481	1.00[EUR][1000 genomes]
rs73601420	1.00[EUR][1000 genomes]
rs8107544	1.00[EUR][1000 genomes]
rs8111611	1.00[EUR][1000 genomes]
rs8112055	1.00[EUR][1000 genomes]
rs8112251	1.00[EUR][1000 genomes]
rs8112491	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1064604	chr19:53730688-53751243	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv580079	chr19:53732590-53756120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3318635	chr19:53734136-53738639	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv3318636	chr19:53734136-53738639	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv10033	chr19:53734422-53738349	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
2	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:53735800-53738000	ZNF genes & repeats	Fetal Brain Female	brain
5	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:53737400-53738000	ZNF genes & repeats	Aorta	Aorta
8	chr19:53737400-53738000	ZNF genes & repeats	Fetal Stomach	stomach
9	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:53737600-53738000	ZNF genes & repeats	Fetal Brain Male	brain
11	chr19:53737800-53743000	Weak transcription	Pancreas	Pancrea

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