Variant report

Variant	rs914111
Chromosome Location	chr21:15488015-15488016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10854277	0.85[ASN][1000 genomes]
rs10854278	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10854279	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10854284	1.00[ASN][1000 genomes]
rs11087909	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11087910	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151976	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12483211	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12483328	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12483373	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1974407	0.88[EUR][1000 genomes]
rs2155969	1.00[ASN][1000 genomes]
rs2156358	0.82[EUR][1000 genomes]
rs2187063	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2187064	1.00[ASN][1000 genomes]
rs2187275	0.88[EUR][1000 genomes]
rs2187276	0.88[EUR][1000 genomes]
rs2226731	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246835	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2263412	1.00[ASN][1000 genomes]
rs2822399	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2822400	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2822401	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2822402	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2822403	0.84[EUR][1000 genomes]
rs2822405	0.87[EUR][1000 genomes]
rs2822411	1.00[ASN][1000 genomes]
rs2822413	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2822429	0.91[ASN][1000 genomes]
rs2822430	0.91[ASN][1000 genomes]
rs28575716	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35777238	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4816941	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4816942	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4816945	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55774504	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55930907	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56809490	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56964975	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58814444	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59363534	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60702377	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208573	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208574	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62208575	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208584	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208585	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208586	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208587	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208588	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62208589	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6516610	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275860	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275968	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276424	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276925	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277769	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277845	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7280792	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281456	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281918	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282128	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8126892	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8131499	0.85[EUR][1000 genomes]
rs8131762	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8133014	0.88[EUR][1000 genomes]
rs8133096	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9789852	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9789885	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9976316	0.87[EUR][1000 genomes]
rs9984737	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1065433	chr21:15484229-15528702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15474000-15489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:15474600-15489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:15475800-15494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:15477600-15498000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:15478000-15495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:15480400-15497200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15485000-15488600	Strong transcription	Dnd41	blood
8	chr21:15486000-15494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:15486200-15496600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:15487400-15489600	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:15487800-15488600	Strong transcription	Fetal Stomach	stomach
12	chr21:15487800-15489000	Enhancers	Esophagus	oesophagus
13	chr21:15488000-15488200	Flanking Active TSS	GM12878-XiMat	blood
14	chr21:15488000-15488600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15488000-15488800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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