Variant report

Variant	rs56414128
Chromosome Location	chr12:43096573-43096574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17092157	1.00[EUR][1000 genomes]
rs17092181	1.00[EUR][1000 genomes]
rs17092182	1.00[EUR][1000 genomes]
rs17092198	1.00[EUR][1000 genomes]
rs2678127	1.00[EUR][1000 genomes]
rs2730978	1.00[EUR][1000 genomes]
rs2730987	1.00[EUR][1000 genomes]
rs2730988	1.00[EUR][1000 genomes]
rs2730990	1.00[EUR][1000 genomes]
rs2730992	1.00[EUR][1000 genomes]
rs4290298	1.00[EUR][1000 genomes]
rs4489809	1.00[EUR][1000 genomes]
rs73277820	1.00[EUR][1000 genomes]
rs74080121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74080160	1.00[EUR][1000 genomes]
rs9669400	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:16 , 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	chr12:43092400-43099600	Weak transcription	Left Ventricle	heart
3	chr12:43092600-43097800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:43092600-43098200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:43092800-43097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:43092800-43098200	Weak transcription	HMEC	breast
7	chr12:43092800-43098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:43092800-43099600	Weak transcription	Fetal Lung	lung
9	chr12:43093000-43097400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:43093000-43098600	Weak transcription	Spleen	Spleen
11	chr12:43093000-43099600	Weak transcription	NHDF-Ad	bronchial
12	chr12:43093200-43098400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:43093600-43097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:43093800-43098600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:43096000-43096600	Enhancers	Fetal Kidney	kidney
16	chr12:43096400-43097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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