Variant report

Variant	rs74080115
Chromosome Location	chr12:43083344-43083345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12311369	1.00[EUR][1000 genomes]
rs12313351	1.00[EUR][1000 genomes]
rs12315374	1.00[EUR][1000 genomes]
rs12317555	1.00[EUR][1000 genomes]
rs12317568	1.00[EUR][1000 genomes]
rs12319896	1.00[EUR][1000 genomes]
rs55898220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73275835	1.00[EUR][1000 genomes]
rs73275837	1.00[EUR][1000 genomes]
rs73275845	1.00[EUR][1000 genomes]
rs73275847	1.00[EUR][1000 genomes]
rs73277834	1.00[EUR][1000 genomes]
rs73277836	1.00[EUR][1000 genomes]
rs73277838	1.00[EUR][1000 genomes]
rs73277841	1.00[EUR][1000 genomes]
rs73277843	1.00[EUR][1000 genomes]
rs73279705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74080120	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43074000-43086000	Weak transcription	Psoas Muscle	Psoas
2	chr12:43077800-43086000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:43079600-43086000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:43080600-43090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:43080800-43083400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:43082000-43085600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:43082400-43085600	Weak transcription	Fetal Lung	lung
8	chr12:43083200-43083800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

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

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