Variant report

Variant	rs430040
Chromosome Location	chr2:185470013-185470014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185463901..185466082-chr2:185467270..185470429,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10197925	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10203158	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693381	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693383	0.84[EUR][1000 genomes]
rs12693384	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13021843	0.83[ASN][1000 genomes]
rs13393273	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13405270	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1480478	0.83[ASN][1000 genomes]
rs2054548	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2054549	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs359882	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs359884	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs359885	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs359886	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs359891	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs359892	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs359895	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs403115	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs435822	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764167	0.83[ASN][1000 genomes]
rs60269985	0.82[ASN][1000 genomes]
rs6434094	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6434095	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6434096	0.83[ASN][1000 genomes]
rs6728764	0.83[ASN][1000 genomes]
rs7564347	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7608194	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608284	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899847	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185466000-185479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:185466800-185471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:185467000-185470800	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links