Variant report

Variant	rs11588699
Chromosome Location	chr1:47990199-47990200
allele	A/G
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]
rs11585530	0.92[ASN][1000 genomes]
rs11590531	0.92[ASN][1000 genomes]
rs17103322	0.92[ASN][1000 genomes]
rs17103342	0.92[ASN][1000 genomes]
rs2102437	1.00[ASN][1000 genomes]
rs28493519	0.92[ASN][1000 genomes]
rs471608	0.92[ASN][1000 genomes]
rs56404532	0.92[ASN][1000 genomes]
rs578335	0.92[ASN][1000 genomes]
rs59326446	0.85[ASN][1000 genomes]
rs59865928	0.92[ASN][1000 genomes]
rs60503680	1.00[ASN][1000 genomes]
rs635710	0.92[ASN][1000 genomes]
rs6688849	0.92[ASN][1000 genomes]
rs72904553	0.92[ASN][1000 genomes]
rs72904554	0.92[ASN][1000 genomes]
rs7531586	1.00[ASN][1000 genomes]
rs7543243	0.92[ASN][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47988200-47990800	Weak transcription	Aorta	Aorta
2	chr1:47988600-47990400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:47988800-47990200	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:47989000-47991600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:47989200-47991000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:47989400-47990400	Enhancers	Stomach Mucosa	stomach
7	chr1:47989600-47990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:47989600-47991000	Enhancers	Liver	Liver
9	chr1:47989800-47991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:47989800-47991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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