Variant report

Variant	rs58293393
Chromosome Location	chr1:185972940-185972941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11803015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808513	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12736863	0.82[AFR][1000 genomes]
rs1884663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55768766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55869520	0.95[AFR][1000 genomes]
rs55955873	0.82[AFR][1000 genomes]
rs56964434	0.82[AFR][1000 genomes]
rs58608875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218817	0.82[AFR][1000 genomes]
rs61629925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134242	0.95[AFR][1000 genomes]
rs74134269	1.00[AFR][1000 genomes]
rs74134273	1.00[AFR][1000 genomes]
rs74134276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134288	0.88[AFR][1000 genomes]
rs74134291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134293	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134296	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185938800-185990200	Weak transcription	Liver	Liver
4	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:185959000-185979200	Weak transcription	Esophagus	oesophagus
8	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
9	chr1:185960600-185977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185964200-185977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:185964200-185979000	Weak transcription	Left Ventricle	heart
12	chr1:185964200-186014800	Weak transcription	Lung	lung
13	chr1:185964600-185979000	Weak transcription	Aorta	Aorta
14	chr1:185965800-185983200	Weak transcription	NHDF-Ad	bronchial
15	chr1:185966000-185978200	Weak transcription	NH-A	brain
16	chr1:185967800-185974400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185972200-185977600	Weak transcription	Osteobl	bone
18	chr1:185972200-185983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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