Variant report

Variant	rs73058387
Chromosome Location	chr1:185720715-185720716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10127552	1.00[AMR][1000 genomes]
rs28507443	1.00[AMR][1000 genomes]
rs28571005	1.00[AMR][1000 genomes]
rs41317459	1.00[AMR][1000 genomes]
rs57642813	1.00[AMR][1000 genomes]
rs57646071	1.00[AMR][1000 genomes]
rs57647869	1.00[AMR][1000 genomes]
rs61492840	1.00[AMR][1000 genomes]
rs6686746	1.00[AMR][1000 genomes]
rs6701269	1.00[AMR][1000 genomes]
rs6703750	1.00[AMR][1000 genomes]
rs73054405	1.00[AMR][1000 genomes]
rs73054410	1.00[AMR][1000 genomes]
rs73054419	1.00[AMR][1000 genomes]
rs73058381	1.00[AMR][1000 genomes]
rs73058389	1.00[AMR][1000 genomes]
rs73058395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73060472	1.00[AMR][1000 genomes]
rs73060496	1.00[AMR][1000 genomes]
rs73062507	1.00[AMR][1000 genomes]
rs73070566	1.00[AMR][1000 genomes]
rs73070580	1.00[AMR][1000 genomes]
rs73070588	1.00[AMR][1000 genomes]
rs73070592	1.00[AMR][1000 genomes]
rs73070595	1.00[AMR][1000 genomes]
rs73072044	1.00[AMR][1000 genomes]
rs73072053	1.00[AMR][1000 genomes]
rs73072054	1.00[AMR][1000 genomes]
rs73072072	1.00[AMR][1000 genomes]
rs73072073	1.00[AMR][1000 genomes]
rs7514923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9727715	1.00[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	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
3	esv2753636	chr1:185706947-185734487	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185715000-185721000	Weak transcription	Aorta	Aorta
2	chr1:185717600-185726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:185718200-185732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185718800-185730800	Weak transcription	Psoas Muscle	Psoas
5	chr1:185720000-185720800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:185720000-185720800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:185720000-185721200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:185720000-185721400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:185720200-185721400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:185720200-185726800	Weak transcription	Stomach Mucosa	stomach
11	chr1:185720400-185721600	Enhancers	ES-I3 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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