Variant report

Variant	rs2050719
Chromosome Location	chr6:145253946-145253947
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	chr6:145252913..145255004-chr6:145259463..145261146,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1011291	0.91[EUR][1000 genomes]
rs1111809	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11155384	0.84[AMR][1000 genomes]
rs11752326	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11969748	0.98[ASN][1000 genomes]
rs12175554	0.91[EUR][1000 genomes]
rs13194942	0.80[EUR][1000 genomes]
rs13195749	0.90[ASN][1000 genomes]
rs13200093	0.89[EUR][1000 genomes]
rs13210332	0.89[ASN][1000 genomes]
rs13213543	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13216473	1.00[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs13216871	0.83[CEU][hapmap];0.83[GIH][hapmap]
rs1338704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338705	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1416297	0.80[EUR][1000 genomes]
rs1572675	0.89[EUR][1000 genomes]
rs17074550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2185145	0.80[EUR][1000 genomes]
rs2328623	0.91[EUR][1000 genomes]
rs4323328	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4487599	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4896762	0.93[ASN][1000 genomes]
rs57337295	0.98[ASN][1000 genomes]
rs6570662	0.84[EUR][1000 genomes]
rs6570663	0.80[EUR][1000 genomes]
rs6913165	0.85[ASN][1000 genomes]
rs6932709	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7768827	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7769009	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7769065	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7773947	0.80[EUR][1000 genomes]
rs9322005	0.86[ASN][1000 genomes]
rs9322016	0.91[EUR][1000 genomes]
rs9322017	0.91[EUR][1000 genomes]
rs9373433	0.84[ASN][1000 genomes]
rs9373434	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9373439	0.89[EUR][1000 genomes]
rs9373441	0.91[EUR][1000 genomes]
rs9376874	0.86[ASN][1000 genomes]
rs9376878	0.80[EUR][1000 genomes]
rs9376883	0.93[EUR][1000 genomes]
rs9376884	0.91[EUR][1000 genomes]
rs9376885	0.91[EUR][1000 genomes]
rs9376886	0.91[EUR][1000 genomes]
rs9376887	0.91[EUR][1000 genomes]
rs9386089	0.84[ASN][1000 genomes]
rs9386096	0.91[EUR][1000 genomes]
rs9386097	0.91[EUR][1000 genomes]
rs9390251	0.86[ASN][1000 genomes]
rs9390252	0.85[ASN][1000 genomes]
rs9390253	0.85[ASN][1000 genomes]
rs9390254	0.84[ASN][1000 genomes]
rs9390257	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9390263	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390268	0.91[EUR][1000 genomes]
rs9390269	0.89[EUR][1000 genomes]
rs9390270	0.88[EUR][1000 genomes]
rs9390271	0.91[EUR][1000 genomes]
rs9390272	0.82[EUR][1000 genomes]
rs9399519	0.84[ASN][1000 genomes]
rs9399520	0.84[ASN][1000 genomes]
rs9399523	0.89[EUR][1000 genomes]
rs9399524	0.89[EUR][1000 genomes]
rs9399525	0.89[EUR][1000 genomes]
rs9399526	0.91[EUR][1000 genomes]
rs9403628	0.82[ASN][1000 genomes]
rs9403629	0.86[ASN][1000 genomes]
rs9403631	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9403633	0.97[ASN][1000 genomes]
rs9403634	0.97[ASN][1000 genomes]
rs9403645	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9403649	0.91[EUR][1000 genomes]
rs9403650	0.91[EUR][1000 genomes]
rs9403652	0.89[EUR][1000 genomes]
rs9403653	0.87[EUR][1000 genomes]
rs9403655	0.91[EUR][1000 genomes]
rs9497135	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv1850377	chr6:145199259-145319640	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2050719	PLAGL1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145251000-145257600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:145252200-145254600	Enhancers	Liver	Liver
3	chr6:145252600-145257400	Weak transcription	Osteobl	bone
4	chr6:145252800-145257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:145253800-145254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links