Variant report

Variant	rs472993
Chromosome Location	chr1:47918359-47918360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1680019	0.80[AFR][1000 genomes]
rs1765156	0.95[AFR][1000 genomes]
rs2820966	0.89[AFR][1000 genomes]
rs479363	0.95[AFR][1000 genomes]
rs4926868	1.00[AFR][1000 genomes]
rs495482	0.95[AFR][1000 genomes]
rs506329	1.00[AFR][1000 genomes]
rs522768	1.00[AFR][1000 genomes]
rs527133	0.95[AFR][1000 genomes]
rs527430	1.00[AFR][1000 genomes]
rs557101	0.95[AFR][1000 genomes]
rs567097	0.80[AFR][1000 genomes]
rs6665542	0.89[AFR][1000 genomes]
rs9436456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436902	0.95[AFR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
3	chr1:47917200-47918800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47918000-47918400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr1:47918000-47918400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:47918000-47918800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr1:47918000-47918800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr1:47918000-47918800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr1:47918000-47918800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr1:47918000-47919000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr1:47918000-47924800	Weak transcription	H1 Derived Neuronal Progenitor 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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