Variant report

Variant	rs882668
Chromosome Location	chr21:47295021-47295022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47292108..47294051-chr21:47294662..47296338,2	K562	blood:
2	chr21:47282962..47285157-chr21:47294870..47296396,2	K562	blood:
3	chr21:47293178..47296152-chr21:47298575..47300607,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1014446	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10854472	0.94[ASN][1000 genomes]
rs11089024	0.94[ASN][1000 genomes]
rs11089027	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12481867	0.94[ASN][1000 genomes]
rs12481913	0.91[ASN][1000 genomes]
rs12481970	0.93[ASN][1000 genomes]
rs12481977	0.94[ASN][1000 genomes]
rs12482010	0.93[ASN][1000 genomes]
rs12482094	0.94[ASN][1000 genomes]
rs12482377	0.94[ASN][1000 genomes]
rs12482853	0.81[ASN][1000 genomes]
rs17351419	0.94[ASN][1000 genomes]
rs17351433	0.94[ASN][1000 genomes]
rs2065334	0.90[ASN][1000 genomes]
rs2839003	0.81[ASN][1000 genomes]
rs2839004	0.81[ASN][1000 genomes]
rs2839005	0.81[ASN][1000 genomes]
rs2839013	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2839014	0.90[ASN][1000 genomes]
rs2839026	0.94[ASN][1000 genomes]
rs2839029	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2839032	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788208	0.90[ASN][1000 genomes]
rs3788209	0.94[ASN][1000 genomes]
rs3788211	0.94[ASN][1000 genomes]
rs3788215	0.91[ASN][1000 genomes]
rs3788216	0.94[ASN][1000 genomes]
rs3788220	0.94[ASN][1000 genomes]
rs3788224	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788227	0.94[ASN][1000 genomes]
rs4818802	0.94[ASN][1000 genomes]
rs4818803	0.94[ASN][1000 genomes]
rs4818805	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819154	0.93[ASN][1000 genomes]
rs4819155	0.94[ASN][1000 genomes]
rs4819156	0.94[ASN][1000 genomes]
rs4819157	0.94[ASN][1000 genomes]
rs55780126	0.81[ASN][1000 genomes]
rs55856400	0.94[ASN][1000 genomes]
rs55875620	0.81[ASN][1000 genomes]
rs55912352	0.94[ASN][1000 genomes]
rs55927540	0.90[ASN][1000 genomes]
rs57688476	0.89[ASN][1000 genomes]
rs61063225	0.91[ASN][1000 genomes]
rs61276251	0.89[ASN][1000 genomes]
rs62211883	0.94[ASN][1000 genomes]
rs62211885	0.94[ASN][1000 genomes]
rs62211886	0.94[ASN][1000 genomes]
rs62211895	0.94[ASN][1000 genomes]
rs62211925	0.94[ASN][1000 genomes]
rs62211926	0.94[ASN][1000 genomes]
rs62214604	0.81[ASN][1000 genomes]
rs62214608	0.90[ASN][1000 genomes]
rs66523344	0.94[ASN][1000 genomes]
rs67055992	0.94[ASN][1000 genomes]
rs67878041	0.94[ASN][1000 genomes]
rs7280173	0.94[ASN][1000 genomes]
rs8127428	0.94[ASN][1000 genomes]
rs882669	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9637208	0.94[ASN][1000 genomes]
rs964975	0.94[ASN][1000 genomes]
rs9983770	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
15	nsv914080	chr21:47265786-47311686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
18	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
19	nsv914084	chr21:47288453-47326666	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	esv14817	chr21:47293464-47303825	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
2	chr21:47273800-47299200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47292000-47295800	Weak transcription	Spleen	Spleen
4	chr21:47293000-47299000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:47294000-47295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:47294400-47295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:47294400-47297000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr21:47294400-47298400	Enhancers	Placenta	Placenta
9	chr21:47294600-47295200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr21:47294600-47295400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:47294600-47295400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:47294600-47295400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:47294600-47295400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:47294600-47295600	Flanking Active TSS	HSMM	muscle
15	chr21:47294600-47295600	Flanking Active TSS	Osteobl	bone
16	chr21:47294600-47295800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr21:47294600-47295800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:47294600-47296000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:47294600-47296800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr21:47294600-47297000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:47294800-47295200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47294800-47295200	Bivalent/Poised TSS	HepG2	liver
23	chr21:47294800-47295400	Enhancers	Fetal Thymus	thymus
24	chr21:47294800-47295600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr21:47294800-47295600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:47294800-47295600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:47294800-47295600	Strong transcription	Thymus	Thymus
28	chr21:47294800-47296400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr21:47294800-47297000	Enhancers	NHLF	lung
30	chr21:47294800-47299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:47295000-47295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr21:47295000-47295200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr21:47295000-47295200	Enhancers	NHEK	skin
34	chr21:47295000-47295400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:47295000-47295800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:47295000-47295800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:47295000-47296000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr21:47295000-47297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr21:47295000-47298000	Enhancers	NH-A	brain
40	chr21:47295000-47298200	Enhancers	NHDF-Ad	bronchial
41	chr21:47295000-47298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:47295000-47298600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:47295000-47298600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr21:47295000-47298800	Enhancers	HSMMtube	muscle

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