Variant report

Variant	rs12562620
Chromosome Location	chr1:216286427-216286428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10864233	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs11585423	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs12119670	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs12123638	0.89[CHB][hapmap]
rs12742246	0.81[EUR][1000 genomes]
rs12751218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs12755871	0.81[EUR][1000 genomes]
rs12759474	0.91[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs12759921	0.91[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs1359290	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs1359291	0.80[EUR][1000 genomes]
rs1544299	0.87[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs1811900	0.91[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1811901	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2068721	0.91[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2147477	0.95[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs2199101	1.00[ASW][hapmap];0.91[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2199102	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs35963782	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs369731	0.91[CEU][hapmap]
rs4308954	0.89[EUR][1000 genomes]
rs442028	0.89[CHB][hapmap];0.95[CHD][hapmap]
rs4971263	0.89[CHB][hapmap];0.95[CHD][hapmap]
rs4971264	0.91[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs4971265	0.81[EUR][1000 genomes]
rs9659188	0.81[EUR][1000 genomes]
rs9660325	0.81[EUR][1000 genomes]
rs9660493	0.86[CEU][hapmap]
rs9727182	0.91[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs9728510	0.91[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1007720	chr1:216268796-216306127	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12562620	SNORA16B	cis	cerebellum	SCAN
rs12562620	DTL	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216279600-216286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:216285800-216286800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:216286200-216289800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:216286400-216287000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links