Variant report

Variant	rs74080120
Chromosome Location	chr12:43092617-43092618
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55898220	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[EUR][1000 genomes]
rs74080115	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43087200-43098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:43089400-43092800	Enhancers	Fetal Lung	lung
3	chr12:43089400-43093400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:43090200-43093000	Enhancers	Adipose Nuclei	Adipose
5	chr12:43090400-43092800	Enhancers	HMEC	breast
6	chr12:43090800-43093000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:43091200-43093600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:43091400-43093000	Enhancers	Hela-S3	cervix
9	chr12:43091800-43092800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:43092200-43092800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:43092200-43092800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:43092400-43093000	Enhancers	NHDF-Ad	bronchial
13	chr12:43092400-43099600	Weak transcription	Left Ventricle	heart
14	chr12:43092600-43093000	Enhancers	Lung	lung
15	chr12:43092600-43093000	Enhancers	Spleen	Spleen
16	chr12:43092600-43093200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:43092600-43097800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:43092600-43098200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links