Variant report

Variant	rs2044872
Chromosome Location	chr11:45420874-45420875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10160422	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10742753	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10742754	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10742755	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10742756	0.91[EUR][1000 genomes]
rs10769141	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1156593	0.91[EUR][1000 genomes]
rs1156594	0.91[EUR][1000 genomes]
rs11602299	0.89[AMR][1000 genomes]
rs1387055	0.91[EUR][1000 genomes]
rs1488662	0.91[EUR][1000 genomes]
rs1906582	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1906584	0.91[EUR][1000 genomes]
rs1906585	0.91[EUR][1000 genomes]
rs2044875	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2167377	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4497379	0.89[EUR][1000 genomes]
rs4755981	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4755982	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6485624	0.91[EUR][1000 genomes]
rs7107091	0.80[AMR][1000 genomes]
rs7126146	0.85[EUR][1000 genomes]
rs7929511	0.91[EUR][1000 genomes]
rs7929683	0.91[EUR][1000 genomes]
rs7942441	0.91[EUR][1000 genomes]
rs7951748	0.91[EUR][1000 genomes]
rs7951947	0.91[EUR][1000 genomes]
rs896331	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs896345	0.91[EUR][1000 genomes]
rs921456	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs985140	0.89[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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv1812422	chr11:45419113-45431510	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45407000-45421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45415200-45421000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45415800-45421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:45416000-45423400	Weak transcription	Spleen	Spleen
6	chr11:45418800-45421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:45420200-45423800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:45420600-45421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45420600-45421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:45420600-45423000	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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