Variant report

Variant	rs2822513
Chromosome Location	chr21:15626591-15626592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15616597..15618358-chr21:15624634..15626645,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1123271	1.00[CHB][hapmap]
rs1297125	1.00[CHB][hapmap]
rs17002266	1.00[CHB][hapmap]
rs2822525	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822527	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822530	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822532	0.82[AMR][1000 genomes]
rs2822534	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822535	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822539	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822540	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822542	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2822543	0.90[AMR][1000 genomes]
rs2822545	1.00[CHB][hapmap]
rs2822549	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822560	1.00[CHB][hapmap]
rs56352003	0.90[AMR][1000 genomes]
rs57559966	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61389358	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62227525	0.81[EUR][1000 genomes]
rs62227529	0.86[AMR][1000 genomes]
rs62227530	0.86[AMR][1000 genomes]
rs62227532	0.86[AMR][1000 genomes]
rs62227533	0.86[AMR][1000 genomes]
rs62230068	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73890745	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73890756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73890758	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73891691	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs909257	1.00[CHB][hapmap]
rs914115	1.00[CHB][hapmap]

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	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
3	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv520538	chr21:15615220-15660539	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1062532	chr21:15616629-15654501	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1067478	chr21:15616629-15657107	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1062862	chr21:15620391-15649232	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1062500	chr21:15620391-15657107	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1804132	chr21:15620695-15628155	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv915906	chr21:15620908-15651744	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544374	chr21:15624517-15656011	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066930	chr21:15626232-15724630	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15626000-15626800	Enhancers	Duodenum Mucosa	Duodenum
2	chr21:15626200-15626600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:15626200-15626600	Enhancers	Colon Smooth Muscle	Colon
4	chr21:15626200-15626600	Enhancers	Fetal Brain Male	brain
5	chr21:15626200-15626600	Enhancers	Fetal Lung	lung
6	chr21:15626200-15626800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr21:15626200-15626800	Enhancers	Stomach Mucosa	stomach
8	chr21:15626200-15627000	Enhancers	Spleen	Spleen
9	chr21:15626400-15626600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:15626400-15626600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:15626400-15626600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:15626400-15626600	Enhancers	Brain Substantia Nigra	brain
13	chr21:15626400-15626600	Enhancers	Dnd41	blood
14	chr21:15626400-15626600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:15626400-15631000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:15626400-15632200	Weak transcription	Liver	Liver

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