Variant report

Variant	rs74134288
Chromosome Location	chr1:185990828-185990829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11803015	0.98[AFR][1000 genomes]
rs11808513	0.91[AFR][1000 genomes]
rs12736863	0.88[AFR][1000 genomes]
rs1884663	0.88[AFR][1000 genomes]
rs4548394	0.84[AFR][1000 genomes]
rs55768766	0.98[AFR][1000 genomes]
rs55869520	0.84[AFR][1000 genomes]
rs55955873	0.88[AFR][1000 genomes]
rs56964434	0.88[AFR][1000 genomes]
rs58293393	0.88[AFR][1000 genomes]
rs61218817	0.88[AFR][1000 genomes]
rs61629925	0.88[AFR][1000 genomes]
rs74134242	0.84[AFR][1000 genomes]
rs74134269	0.88[AFR][1000 genomes]
rs74134273	0.88[AFR][1000 genomes]
rs74134276	0.88[AFR][1000 genomes]
rs74134278	0.88[AFR][1000 genomes]
rs74134284	0.98[AFR][1000 genomes]
rs74134286	0.95[AFR][1000 genomes]
rs74134287	0.98[AFR][1000 genomes]
rs74134291	0.98[AFR][1000 genomes]
rs74134293	0.95[AFR][1000 genomes]
rs74134296	0.95[AFR][1000 genomes]
rs74134301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134302	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74136019	0.84[AFR][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	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
5	chr1:185964200-186014800	Weak transcription	Lung	lung
6	chr1:185979200-185992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:185979200-186003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:185979400-186003200	Weak transcription	Aorta	Aorta
9	chr1:185984000-185999000	Weak transcription	NHDF-Ad	bronchial
10	chr1:185984600-185995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart
12	chr1:185986400-186006400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:185986600-185994600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:185986800-185992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:185987200-186000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:185988200-185995800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:185990600-185991400	Weak transcription	Liver	Liver
18	chr1:185990800-185991800	Enhancers	K562	blood

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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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