Variant report

Variant	rs8133014
Chromosome Location	chr21:15476452-15476453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10854277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10854278	0.90[EUR][1000 genomes]
rs10854279	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11087909	0.91[EUR][1000 genomes]
rs11087910	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12151976	0.88[EUR][1000 genomes]
rs12483211	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12483328	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12483373	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1974407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156358	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2187275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2226731	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2822399	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2822400	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2822401	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2822402	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2822403	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822405	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822406	0.89[AFR][1000 genomes]
rs2822407	0.87[AFR][1000 genomes]
rs2822408	0.89[AFR][1000 genomes]
rs28575716	0.92[EUR][1000 genomes]
rs35777238	0.91[EUR][1000 genomes]
rs4816224	0.86[EUR][1000 genomes]
rs4816941	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4816942	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4816945	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55774504	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55930907	0.90[EUR][1000 genomes]
rs56809490	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56964975	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57924830	0.89[AFR][1000 genomes]
rs58106611	0.86[EUR][1000 genomes]
rs58814444	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59363534	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60702377	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62208560	0.86[EUR][1000 genomes]
rs62208573	0.86[EUR][1000 genomes]
rs62208574	0.86[EUR][1000 genomes]
rs62208575	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62208581	0.83[EUR][1000 genomes]
rs62208582	0.81[EUR][1000 genomes]
rs62208583	0.85[EUR][1000 genomes]
rs62208584	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62208585	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62208586	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62208587	0.90[EUR][1000 genomes]
rs62208588	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62208589	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62211266	0.83[EUR][1000 genomes]
rs62211267	0.86[EUR][1000 genomes]
rs6516610	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7275860	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7275968	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7276133	0.86[EUR][1000 genomes]
rs7276424	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7276925	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7277769	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7277845	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7280792	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7281456	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7281918	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7282128	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73342118	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73342122	0.86[EUR][1000 genomes]
rs8126892	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8127052	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8131158	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8131499	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131762	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8132276	0.86[EUR][1000 genomes]
rs8133096	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914111	0.88[EUR][1000 genomes]
rs9789852	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789885	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9976316	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981683	0.88[AFR][1000 genomes]
rs9984737	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv1831533	chr21:15442382-15477876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
8	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
9	esv1830377	chr21:15446911-15477676	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
10	nsv962667	chr21:15468206-15478776	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
2	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
3	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
4	chr21:15467600-15477000	Strong transcription	Dnd41	blood
5	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:15468600-15476600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:15470400-15487200	Weak transcription	Ovary	ovary
8	chr21:15470600-15480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:15470800-15476600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:15470800-15476800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:15470800-15477000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:15470800-15477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:15470800-15483600	Weak transcription	Fetal Lung	lung
14	chr21:15470800-15484800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:15470800-15486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:15471000-15484200	Weak transcription	Fetal Brain Female	brain
17	chr21:15474000-15489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:15474600-15489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:15474800-15476800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:15475000-15477800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr21:15475000-15486600	Weak transcription	Fetal Stomach	stomach
22	chr21:15475200-15477600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr21:15475400-15485200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:15475600-15477000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:15475800-15494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr21:15476000-15476800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:15476200-15477200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:15476400-15476800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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