Variant report

Variant	rs8133169
Chromosome Location	chr21:15456020-15456021
allele	C/G
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:15)

rs_ID	r²[population]
rs12627691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226730	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2822397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56812774	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58025195	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58841158	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59808785	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59901297	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67981257	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151503	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73151515	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151533	0.81[EUR][1000 genomes]
rs73338200	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73340110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv1827538	chr21:15446711-15472381	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	n/a
10	esv990249	chr21:15446864-15471276	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
11	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
12	esv1830288	chr21:15448891-15474325	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
4	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr21:15454400-15457600	ZNF genes & repeats	Dnd41	blood
6	chr21:15454600-15456200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:15455400-15456400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15455400-15456600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:15455400-15457400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15455400-15457600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr21:15455400-15457600	ZNF genes & repeats	Esophagus	oesophagus
12	chr21:15455600-15457000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:15455600-15457200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:15455600-15457400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr21:15455600-15457800	ZNF genes & repeats	Fetal Brain Female	brain
16	chr21:15455800-15456600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:15455800-15457200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:15455800-15457400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:15455800-15457600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:15455800-15457600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr21:15455800-15457800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:15455800-15457800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:15455800-15460200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
25	chr21:15456000-15456400	Active TSS	Primary T cells from cord blood	blood
26	chr21:15456000-15456400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr21:15456000-15457600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr21:15456000-15457600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:15456000-15457600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:15456000-15457600	ZNF genes & repeats	Ovary	ovary
31	chr21:15456000-15458000	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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