Variant report

Variant	rs2823326
Chromosome Location	chr21:16898630-16898631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10854386	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088441	0.92[EUR][1000 genomes]
rs11088442	0.92[EUR][1000 genomes]
rs11088443	0.92[EUR][1000 genomes]
rs11088447	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11909880	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11911998	0.90[EUR][1000 genomes]
rs11912014	0.91[EUR][1000 genomes]
rs12151954	0.91[EUR][1000 genomes]
rs2823325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823333	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823335	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823337	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823342	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823347	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823348	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823350	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823352	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823359	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823361	0.88[EUR][1000 genomes]
rs4816600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116400	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57533932	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61412083	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61704885	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9976620	0.88[CHB][hapmap]

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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2823326	BTG3	cis	parietal	SCAN
rs2823326	RBM11	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16894000-16898800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:16894000-16899200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:16894200-16899000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:16894200-16899000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr21:16894600-16899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:16897400-16901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16898400-16898800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr21:16898400-16901200	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:16898600-16899400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr21:16898600-16899400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16898600-16899600	Enhancers	Primary T cells from cord blood	blood
12	chr21:16898600-16899600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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