Variant report

Variant	rs17092692
Chromosome Location	chr8:20375609-20375610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10464996	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10503682	0.87[EUR][1000 genomes]
rs1351381	0.84[EUR][1000 genomes]
rs1383248	0.87[EUR][1000 genomes]
rs17092696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17092697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17092700	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092702	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092705	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092707	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092733	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17116636	0.80[YRI][hapmap]
rs17420434	0.92[EUR][1000 genomes]
rs17420448	0.92[EUR][1000 genomes]
rs17420455	0.87[EUR][1000 genomes]
rs17420595	0.84[EUR][1000 genomes]
rs17420602	0.84[EUR][1000 genomes]
rs17492344	0.92[EUR][1000 genomes]
rs17492491	0.84[EUR][1000 genomes]
rs1979430	0.87[EUR][1000 genomes]
rs1979431	0.87[EUR][1000 genomes]
rs1979432	0.87[EUR][1000 genomes]
rs6994255	0.92[EUR][1000 genomes]
rs73614170	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17092692	NIT1	cis	Frontal Cortex	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20367400-20377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20373800-20375800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:20374200-20375800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20375200-20376000	Enhancers	Fetal Brain Male	brain
5	chr8:20375200-20376200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr8:20375400-20377000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:20375400-20377200	Weak transcription	Primary hematopoietic stem cells	blood

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