Variant report

Variant	rs7898545
Chromosome Location	chr10:50793321-50793322
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10776575	0.81[EUR][1000 genomes]
rs10776581	0.82[ASN][1000 genomes]
rs10857504	0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10857506	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857510	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11101155	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11591393	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12146288	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1917803	0.91[ASN][1000 genomes]
rs1917820	0.80[EUR][1000 genomes]
rs1917821	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2177819	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2229760	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2281793	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs2377900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3750747	0.83[EUR][1000 genomes]
rs3793784	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4253038	0.82[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap]
rs4253190	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs4253234	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[EUR][1000 genomes]
rs6537540	0.82[ASN][1000 genomes]
rs7081472	0.82[ASN][1000 genomes]
rs7895633	0.84[EUR][1000 genomes]
rs9988727	0.84[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7898545	ERCC6	cis	cerebellum	SCAN
rs7898545	ERCC6	cis	parietal	SCAN
rs7898545	NCOA4	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50792400-50793400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50792800-50793600	Enhancers	HMEC	breast
3	chr10:50793000-50793400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:50793000-50793600	Enhancers	HSMM	muscle
5	chr10:50793000-50793800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr10:50793000-50793800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:50793000-50793800	Enhancers	NHEK	skin
8	chr10:50793000-50793800	Enhancers	Osteobl	bone
9	chr10:50793000-50794000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:50793000-50794200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:50793000-50794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:50793200-50793400	Enhancers	HSMMtube	muscle
13	chr10:50793200-50793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:50793200-50793800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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