Variant report

Variant	rs875503
Chromosome Location	chr8:105252879-105252880
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	chr8:105252275..105253878-chr8:105256264..105258557,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1026058	1.00[CEU][hapmap]
rs1031228	0.81[EUR][1000 genomes]
rs1031230	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447070	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447073	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1562402	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1900521	0.93[EUR][1000 genomes]
rs2249124	0.85[AMR][1000 genomes];0.99[EUR][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	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441806	0.96[EUR][1000 genomes]
rs2441807	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];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	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441887	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441890	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441891	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441900	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441901	0.91[AMR][1000 genomes];0.98[EUR][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	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511588	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511589	0.96[EUR][1000 genomes]
rs2511591	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511639	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2511645	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3133283	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs875503	DPYS	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105236800-105257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105252200-105253600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:105252400-105254000	Enhancers	NHEK	skin
4	chr8:105252800-105253400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:105252800-105253400	Enhancers	HMEC	breast
6	chr8:105252800-105253800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:105252800-105253800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:105252800-105254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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