Variant report

Variant	rs17690030
Chromosome Location	chr16:79782150-79782151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79780045..79782681-chr16:79783424..79786926,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12443838	1.00[CHB][hapmap]
rs28414130	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28687312	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4458007	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55981441	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55993612	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56006814	0.85[EUR][1000 genomes]
rs56119147	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62041260	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62041303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041304	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041307	0.85[EUR][1000 genomes]
rs62041308	0.83[EUR][1000 genomes]
rs62041309	0.83[EUR][1000 genomes]
rs62041310	0.83[EUR][1000 genomes]
rs62041311	0.83[EUR][1000 genomes]
rs62041312	0.83[EUR][1000 genomes]
rs62041313	0.83[EUR][1000 genomes]
rs62041316	0.83[EUR][1000 genomes]
rs62041317	0.83[EUR][1000 genomes]
rs62041318	0.83[EUR][1000 genomes]
rs62041319	0.83[EUR][1000 genomes]
rs62041320	0.83[EUR][1000 genomes]
rs62043344	0.91[EUR][1000 genomes]
rs62043346	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043347	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043348	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043349	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043352	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043353	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043354	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043355	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043356	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043357	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043358	0.91[EUR][1000 genomes]
rs62043359	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs8053535	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79772600-79785600	Weak transcription	Fetal Lung	lung
2	chr16:79775600-79782800	Weak transcription	Fetal Intestine Small	intestine
3	chr16:79781600-79782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:79781800-79782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:79782000-79782400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:79782000-79783600	Enhancers	Primary T cells from cord blood	blood

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