Variant report

Variant	rs73102562
Chromosome Location	chr12:40174829-40174830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs58831669	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092112	0.92[AFR][1000 genomes]
rs73092158	0.89[AFR][1000 genomes]
rs73095613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095624	0.86[AFR][1000 genomes]
rs73095629	0.80[AFR][1000 genomes]
rs73095648	1.00[AMR][1000 genomes]
rs73095657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096551	0.81[AFR][1000 genomes]
rs73096571	0.81[AFR][1000 genomes]
rs73096578	0.81[AFR][1000 genomes]
rs73098557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098572	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098577	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102575	0.92[AFR][1000 genomes]
rs73104971	0.81[AFR][1000 genomes]
rs73104975	0.81[AFR][1000 genomes]
rs73104981	0.81[AFR][1000 genomes]
rs7311368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1053603	chr12:40082673-40197609	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv427907	chr12:40122713-40199621	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv428280	chr12:40122713-40199621	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
2	chr12:40158200-40179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
4	chr12:40161600-40198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:40171600-40175000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40173000-40175600	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:40174200-40175000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:40174400-40175400	Enhancers	Fetal Lung	lung
9	chr12:40174400-40175400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:40174400-40186200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:40174800-40175200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:40174800-40175800	Flanking Active TSS	Hela-S3	cervix
13	chr12:40174800-40176200	Enhancers	Colon Smooth Muscle	Colon

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