Variant report

Variant	rs12267483
Chromosome Location	chr10:54055378-54055379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16928850	0.87[AMR][1000 genomes]
rs16928954	0.87[AMR][1000 genomes]
rs16928959	0.87[AMR][1000 genomes]
rs60880574	0.87[AMR][1000 genomes]
rs73348719	0.87[AMR][1000 genomes]
rs9664313	0.85[AMR][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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
2	chr10:54037800-54056000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:54040600-54057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:54041400-54068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:54042800-54068200	Weak transcription	Aorta	Aorta
6	chr10:54043200-54060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:54043200-54067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:54045000-54055600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:54045000-54060400	Weak transcription	Psoas Muscle	Psoas
10	chr10:54045000-54068000	Weak transcription	HSMMtube	muscle
11	chr10:54048200-54055800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:54048400-54060400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:54049400-54055400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:54049800-54061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:54052000-54061200	Weak transcription	Fetal Stomach	stomach
16	chr10:54053000-54061800	Weak transcription	Right Ventricle	heart

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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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