Variant report

Variant	rs2885458
Chromosome Location	chr1:214881318-214881319
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11805850	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11805851	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11809132	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11811160	1.00[EUR][1000 genomes]
rs12385729	0.86[EUR][1000 genomes]
rs2362217	0.85[EUR][1000 genomes]
rs60354465	0.96[EUR][1000 genomes]
rs61818043	0.83[EUR][1000 genomes]
rs61818051	0.96[EUR][1000 genomes]
rs61819460	0.96[EUR][1000 genomes]
rs61819486	0.90[EUR][1000 genomes]
rs61819487	0.88[EUR][1000 genomes]
rs61819488	0.89[EUR][1000 genomes]
rs61819489	0.89[EUR][1000 genomes]
rs61819492	0.89[EUR][1000 genomes]
rs6682081	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6683858	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6687999	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6694811	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73083694	0.96[EUR][1000 genomes]
rs73085810	0.89[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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214880800-214882000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:214880800-214882600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:214880800-214882600	Enhancers	Osteobl	bone
4	chr1:214880800-214882800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:214881000-214881600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:214881000-214882400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:214881000-214882600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214881000-214882600	Enhancers	NHDF-Ad	bronchial
9	chr1:214881200-214881400	Enhancers	HepG2	liver
10	chr1:214881200-214881600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:214881200-214882600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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