Variant report

Variant	rs8132054
Chromosome Location	chr21:47312800-47312801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1033366	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11702478	0.88[JPT][hapmap]
rs12626343	0.94[ASN][1000 genomes]
rs13048129	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs1736420	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1783075	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2070437	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2075908	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2839015	0.80[CHD][hapmap]
rs2839034	0.80[CHD][hapmap]
rs2839036	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2839042	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2839043	0.94[CHB][hapmap]
rs2839044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs2839045	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2839046	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2839048	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2839051	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs2839052	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2839060	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs28515553	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs373617	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs381083	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs431609	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs437264	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs452332	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4818808	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819163	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819168	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs57691792	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62211942	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277818	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7281469	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7283763	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs8130949	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8132062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
19	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
20	nsv1062420	chr21:47311566-47347666	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8132054	SIK1	cis	parietal	SCAN
rs8132054	KRTAP12-2	cis	cerebellum	SCAN
rs8132054	RIPK4	cis	cerebellum	SCAN
rs8132054	COL6A1	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:47307200-47313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr21:47307400-47313400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr21:47307600-47313600	Weak transcription	NHDF-Ad	bronchial
8	chr21:47307600-47313800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:47308000-47312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
11	chr21:47308200-47314000	Weak transcription	Left Ventricle	heart
12	chr21:47310000-47313600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:47310200-47313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:47310200-47313600	Weak transcription	Brain Substantia Nigra	brain
15	chr21:47310200-47313800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:47310200-47313800	Weak transcription	Brain Hippocampus Middle	brain
17	chr21:47310400-47313200	Weak transcription	HSMM	muscle
18	chr21:47310600-47313800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr21:47310800-47313400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr21:47311000-47313200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr21:47311000-47314600	Enhancers	Spleen	Spleen
22	chr21:47311000-47315400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr21:47311400-47313000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:47311400-47313400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:47311400-47313600	Enhancers	Primary B cells from peripheral blood	blood
26	chr21:47311400-47314600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr21:47311400-47316200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr21:47311400-47316200	Enhancers	Fetal Thymus	thymus
29	chr21:47311600-47312800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr21:47311600-47312800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:47311600-47312800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr21:47311600-47313000	Enhancers	Primary B cells from cord blood	blood
33	chr21:47311600-47313200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr21:47311600-47313200	Enhancers	Primary hematopoietic stem cells	blood
35	chr21:47311600-47313600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:47311600-47315200	Enhancers	Thymus	Thymus
37	chr21:47311800-47312800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr21:47311800-47313600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr21:47311800-47314400	Enhancers	Colonic Mucosa	Colon
40	chr21:47312000-47312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:47312000-47312800	Enhancers	Lung	lung
42	chr21:47312200-47313200	Weak transcription	Placenta	Placenta
43	chr21:47312400-47312800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr21:47312400-47313000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:47312400-47313600	Weak transcription	Adipose Nuclei	Adipose
46	chr21:47312400-47313600	Weak transcription	Fetal Intestine Small	intestine
47	chr21:47312400-47313800	Enhancers	Primary T cells from cord blood	blood
48	chr21:47312400-47314000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr21:47312600-47312800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr21:47312600-47312800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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