Variant report

Variant	rs74090336
Chromosome Location	chr12:40172893-40172894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs4573758	1.00[AMR][1000 genomes]
rs4631951	1.00[AMR][1000 genomes]
rs57597535	1.00[AMR][1000 genomes]
rs60191587	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61328583	1.00[AMR][1000 genomes]
rs61448501	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268364	1.00[AMR][1000 genomes]
rs73268367	1.00[AMR][1000 genomes]
rs73270411	1.00[AMR][1000 genomes]
rs73270422	1.00[AMR][1000 genomes]
rs73270464	1.00[AMR][1000 genomes]
rs74086403	1.00[AMR][1000 genomes]
rs74086422	1.00[AMR][1000 genomes]
rs74086425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090316	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090342	1.00[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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
2	chr12:40158000-40173600	Weak transcription	Aorta	Aorta
3	chr12:40158200-40174400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:40158200-40179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
6	chr12:40161600-40198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:40171600-40175000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:40172600-40174800	Enhancers	Hela-S3	cervix
9	chr12:40172800-40174400	Enhancers	Colon Smooth Muscle	Colon

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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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