Variant report

Variant	rs72718885
Chromosome Location	chr1:185998333-185998334
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1116146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11576597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11580879	1.00[AMR][1000 genomes]
rs11581389	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12067376	0.83[EUR][1000 genomes]
rs41317473	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718862	1.00[AMR][1000 genomes]
rs72718875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718880	1.00[AMR][1000 genomes]
rs72718888	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718900	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][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:12 , 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	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
4	chr1:185964200-186014800	Weak transcription	Lung	lung
5	chr1:185979200-186003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185979400-186003200	Weak transcription	Aorta	Aorta
7	chr1:185984000-185999000	Weak transcription	NHDF-Ad	bronchial
8	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart
9	chr1:185986400-186006400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:185987200-186000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:185993200-186023000	Weak transcription	Liver	Liver
12	chr1:185995000-185998600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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