Variant report

Variant	rs533894
Chromosome Location	chr1:47935863-47935864
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10789508	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211538	0.98[ASN][1000 genomes]
rs12035995	0.80[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs12046016	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12404237	0.82[AMR][1000 genomes]
rs17103251	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17103253	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3814005	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs4926858	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs4926865	0.83[AMR][1000 genomes]
rs4926870	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926871	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6665045	0.83[AMR][1000 genomes]
rs6674100	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6689636	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6697911	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72902514	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs870357	0.88[AMR][1000 genomes];0.85[EUR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47933200-47936400	Enhancers	Brain Germinal Matrix	brain
2	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
3	chr1:47935000-47940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:47935000-47943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:47935000-47943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:47935000-47943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:47935400-47936000	Enhancers	K562	blood
8	chr1:47935600-47936000	Enhancers	iPS DF 19.11 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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