Variant report

Variant	rs2511639
Chromosome Location	chr8:105188205-105188206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1026058	1.00[CEU][hapmap]
rs1031228	0.83[EUR][1000 genomes]
rs1031230	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10505057	0.98[ASN][1000 genomes]
rs1447070	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447073	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871032	0.81[ASN][1000 genomes]
rs16871036	0.81[ASN][1000 genomes]
rs1900521	0.93[EUR][1000 genomes]
rs2249124	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441791	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2441800	0.96[EUR][1000 genomes]
rs2441801	0.96[EUR][1000 genomes]
rs2441805	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441806	0.96[EUR][1000 genomes]
rs2441807	0.95[EUR][1000 genomes]
rs2441808	0.96[EUR][1000 genomes]
rs2441809	0.96[EUR][1000 genomes]
rs2441811	0.96[EUR][1000 genomes]
rs2441812	0.96[EUR][1000 genomes]
rs2441886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441887	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2441890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2441891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441900	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441901	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441921	1.00[CEU][hapmap];0.94[TSI][hapmap]
rs2511564	1.00[CEU][hapmap]
rs2511566	1.00[CEU][hapmap]
rs2511569	1.00[CEU][hapmap]
rs2511573	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2511574	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511575	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2511576	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511577	0.97[EUR][1000 genomes]
rs2511584	0.97[EUR][1000 genomes]
rs2511586	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511588	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511589	0.96[EUR][1000 genomes]
rs2511591	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511645	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133283	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6651195	0.98[ASN][1000 genomes]
rs67581959	0.98[ASN][1000 genomes]
rs6989523	0.98[ASN][1000 genomes]
rs7018164	0.98[ASN][1000 genomes]
rs72685033	0.81[ASN][1000 genomes]
rs72685058	0.81[ASN][1000 genomes]
rs7841196	0.98[ASN][1000 genomes]
rs875503	0.85[AMR][1000 genomes];0.97[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	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2511639	DPYS	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105156400-105188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105187600-105188800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:105187800-105188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:105187800-105188600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:105188000-105188400	Enhancers	NH-A	brain
6	chr8:105188000-105188600	Flanking Active TSS	NHEK	skin
7	chr8:105188000-105188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:105188200-105188400	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:105188200-105188400	Enhancers	HMEC	breast
10	chr8:105188200-105188600	Enhancers	H9 Cell Line	embryonic stem cell

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