Variant report

Variant	rs1522
Chromosome Location	chr21:40887185-40887186
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483056	1.00[CHD][hapmap]
rs11088480	0.87[EUR][1000 genomes]
rs16997635	1.00[CEU][hapmap]
rs16997765	1.00[CHD][hapmap]
rs16997780	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2091242	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2091243	1.00[EUR][1000 genomes]
rs2103152	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837037	1.00[CHD][hapmap]
rs2837039	1.00[CHD][hapmap]
rs2837056	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837058	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2837060	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837061	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2837062	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837064	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837065	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2837066	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2837067	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs57239120	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7276418	1.00[CHD][hapmap]
rs7281425	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7281794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282142	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7283949	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8130969	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8131078	0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8133147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
2	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr21:40875200-40890400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr21:40875400-40890200	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:40875400-40890400	Weak transcription	Fetal Lung	lung
6	chr21:40875800-40895200	Weak transcription	Brain Substantia Nigra	brain
7	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:40876400-40887600	Weak transcription	Left Ventricle	heart
9	chr21:40876400-40894600	Weak transcription	Gastric	stomach
10	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40877000-40891000	Weak transcription	Pancreas	Pancrea
12	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:40878200-40889800	Weak transcription	Primary T cells from cord blood	blood
14	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:40883200-40887800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:40883400-40890400	Weak transcription	Fetal Kidney	kidney
17	chr21:40884600-40887600	Weak transcription	Brain Anterior Caudate	brain
18	chr21:40885200-40888200	Enhancers	Fetal Brain Male	brain
19	chr21:40885400-40890600	Weak transcription	Fetal Heart	heart
20	chr21:40885600-40887600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr21:40885600-40891000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:40885800-40887800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:40886400-40888200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:40886800-40888200	Enhancers	Fetal Brain Female	brain
25	chr21:40887000-40888000	Strong transcription	Aorta	Aorta
26	chr21:40887000-40888200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:40887000-40890600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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