Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1297219	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997576	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2142220	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2142221	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2205238	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2205239	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2243778	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2252756	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253879	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2254152	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2254269	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2254729	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254956	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2255190	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2403876	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2776045	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823032	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8130770	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134191	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs972136	0.90[AMR][1000 genomes];0.90[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	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr21:16438400-16443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:16439000-16440600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:16439000-16441000	Enhancers	HepG2	liver
4	chr21:16439200-16439800	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:16439200-16439800	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:16439200-16440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16439400-16439800	Enhancers	Colon Smooth Muscle	Colon
8	chr21:16439400-16440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:16439600-16439800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:16439600-16439800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr21:16439600-16439800	Enhancers	Brain Inferior Temporal Lobe	brain

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