Variant report

Variant	rs12338590
Chromosome Location	chr9:16886392-16886393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10756822	0.90[ASN][1000 genomes]
rs10810652	0.90[ASN][1000 genomes]
rs10810655	0.90[ASN][1000 genomes]
rs10810657	0.91[ASN][1000 genomes]
rs10810658	0.86[ASN][1000 genomes]
rs10962650	0.87[ASN][1000 genomes]
rs10962668	0.87[ASN][1000 genomes]
rs10962674	0.84[ASN][1000 genomes]
rs12345776	0.89[ASN][1000 genomes]
rs1890640	0.89[ASN][1000 genomes]
rs28498684	0.82[ASN][1000 genomes]
rs36116821	0.82[ASN][1000 genomes]
rs3927680	0.90[ASN][1000 genomes]
rs4644350	0.89[ASN][1000 genomes]
rs7040151	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892652	chr9:16843128-16958312	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv892653	chr9:16848790-16895610	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv1018615	chr9:16865804-16960970	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv540074	chr9:16865804-16960970	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv613680	chr9:16882888-16887073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv613685	chr9:16884293-16887073	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16883600-16886600	Enhancers	Dnd41	blood
2	chr9:16885000-16886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:16885400-16886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:16885800-16886400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:16886000-16887200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:16886200-16887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:16886200-16888000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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