Variant report

Variant	rs2839033
Chromosome Location	chr21:47296381-47296382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47282962..47285157-chr21:47294870..47296396,2	K562	blood:
2	chr21:47295466..47298745-chr21:47300328..47303080,5	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1059010	1.00[ASN][1000 genomes]
rs10854474	1.00[ASN][1000 genomes]
rs10854475	1.00[ASN][1000 genomes]
rs11089025	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701693	1.00[ASN][1000 genomes]
rs1625244	1.00[ASN][1000 genomes]
rs1736424	1.00[ASN][1000 genomes]
rs1783076	1.00[ASN][1000 genomes]
rs2014421	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026286	1.00[ASN][1000 genomes]
rs2150453	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150454	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2210290	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2277812	1.00[ASN][1000 genomes]
rs2330327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776402	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2839020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.93[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839035	1.00[CHB][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839039	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs2839041	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839050	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs2839054	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs34495634	1.00[ASN][1000 genomes]
rs34990419	1.00[ASN][1000 genomes]
rs369245	1.00[ASN][1000 genomes]
rs371587	1.00[ASN][1000 genomes]
rs373267	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs374331	1.00[ASN][1000 genomes]
rs375254	1.00[ASN][1000 genomes]
rs375971	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs377213	1.00[ASN][1000 genomes]
rs3788217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788226	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380120	1.00[ASN][1000 genomes]
rs382195	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs382303	1.00[ASN][1000 genomes]
rs402039	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs402355	1.00[ASN][1000 genomes]
rs403192	1.00[ASN][1000 genomes]
rs407651	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs410902	1.00[ASN][1000 genomes]
rs413246	1.00[ASN][1000 genomes]
rs413517	1.00[ASN][1000 genomes]
rs420386	1.00[ASN][1000 genomes]
rs425232	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs432338	1.00[ASN][1000 genomes]
rs4369958	1.00[ASN][1000 genomes]
rs439145	1.00[ASN][1000 genomes]
rs442953	1.00[ASN][1000 genomes]
rs451920	1.00[ASN][1000 genomes]
rs452797	1.00[ASN][1000 genomes]
rs454268	1.00[ASN][1000 genomes]
rs4818804	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819143	1.00[ASN][1000 genomes]
rs4819159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56695931	1.00[ASN][1000 genomes]
rs6518257	1.00[ASN][1000 genomes]
rs6518258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518259	1.00[ASN][1000 genomes]
rs71324446	1.00[ASN][1000 genomes]
rs7276114	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277632	1.00[ASN][1000 genomes]
rs7279887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280054	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283688	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159604	1.00[ASN][1000 genomes]
rs7410101	1.00[ASN][1000 genomes]
rs7410105	1.00[ASN][1000 genomes]
rs753092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760436	0.91[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8131193	1.00[CHB][hapmap]
rs8133932	1.00[ASN][1000 genomes]
rs9637207	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653791	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989650	1.00[ASN][1000 genomes]
rs9976042	1.00[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2839033	ITGB2	cis	lymphoblastoid	seeQTL
rs2839033	INPP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 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	chr21:47293000-47299000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47294400-47297000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr21:47294400-47298400	Enhancers	Placenta	Placenta
6	chr21:47294600-47296800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:47294600-47297000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:47294800-47296400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr21:47294800-47297000	Enhancers	NHLF	lung
10	chr21:47294800-47299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:47295000-47297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:47295000-47298000	Enhancers	NH-A	brain
13	chr21:47295000-47298200	Enhancers	NHDF-Ad	bronchial
14	chr21:47295000-47298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:47295000-47298600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:47295000-47298600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:47295000-47298800	Enhancers	HSMMtube	muscle
18	chr21:47295200-47297200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:47295200-47297400	Enhancers	Fetal Lung	lung
20	chr21:47295400-47296800	Enhancers	Right Ventricle	heart
21	chr21:47295400-47297000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:47295400-47297000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:47295400-47299800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:47295400-47299800	Weak transcription	Fetal Thymus	thymus
25	chr21:47295600-47296400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:47295600-47297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:47295600-47297200	Enhancers	NHEK	skin
28	chr21:47295600-47298600	Enhancers	HSMM	muscle
29	chr21:47295600-47300000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:47295600-47300200	Weak transcription	Thymus	Thymus
31	chr21:47295600-47309200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:47295800-47296600	Enhancers	Spleen	Spleen
33	chr21:47295800-47296800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:47295800-47297200	Enhancers	Fetal Kidney	kidney
35	chr21:47295800-47297600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:47295800-47297600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:47295800-47298200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr21:47295800-47298200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:47295800-47298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:47296000-47296400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:47296000-47296800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:47296000-47296800	Enhancers	Brain Germinal Matrix	brain
43	chr21:47296000-47297200	Enhancers	Fetal Heart	heart
44	chr21:47296000-47297800	Weak transcription	Osteobl	bone
45	chr21:47296000-47298400	Enhancers	Fetal Muscle Leg	muscle
46	chr21:47296200-47297200	Enhancers	Fetal Brain Female	brain
47	chr21:47296200-47298000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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