Variant report

Variant	rs1883046
Chromosome Location	chr21:47330225-47330226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr21:47330092-47330357	SK-N-SH_RA	brain:	n/a	n/a
2	NFIC	chr21:47330211-47330839	SK-N-SH	brain:	n/a	chr21:47330583-47330599 chr21:47330581-47330597 chr21:47330581-47330598 chr21:47330582-47330599
3	USF1	chr21:47330098-47330276	SK-N-SH_RA	brain:	n/a	n/a
4	SRF	chr21:47330026-47330584	MCF-7	breast:	n/a	n/a
5	NFIC	chr21:47330189-47330813	ECC-1	luminal epithelium:	n/a	chr21:47330583-47330599 chr21:47330581-47330597 chr21:47330581-47330598 chr21:47330582-47330599

No.	Distal block	Cell Line	Cell type
1	chr21:47329095..47331174-chr21:47334966..47337510,2	MCF-7	breast:
2	chr21:47328644..47331016-chr21:47340908..47343121,3	MCF-7	breast:
3	chr21:47318888..47321827-chr21:47328391..47331106,3	MCF-7	breast:
4	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11089029	0.85[EUR][1000 genomes]
rs11089030	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1736419	0.90[EUR][1000 genomes]
rs1736420	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1736422	0.87[EUR][1000 genomes]
rs1736423	0.87[EUR][1000 genomes]
rs1783075	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070437	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075886	0.82[EUR][1000 genomes]
rs2075888	0.82[EUR][1000 genomes]
rs2075889	0.82[EUR][1000 genomes]
rs2075890	0.82[EUR][1000 genomes]
rs2075891	0.82[EUR][1000 genomes]
rs2075908	0.93[ASN][1000 genomes]
rs2075909	0.93[ASN][1000 genomes]
rs2839042	0.85[EUR][1000 genomes]
rs2839045	0.83[EUR][1000 genomes]
rs2839046	0.85[EUR][1000 genomes]
rs2839047	0.85[EUR][1000 genomes]
rs2839048	0.85[EUR][1000 genomes]
rs2839052	0.85[EUR][1000 genomes]
rs373617	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs379939	0.81[EUR][1000 genomes]
rs381083	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs386633	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs395418	0.90[EUR][1000 genomes]
rs409280	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs411868	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs413886	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs417745	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs417972	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs418241	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs418431	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs419348	0.86[EUR][1000 genomes]
rs420270	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs426594	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs431609	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs435299	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs437264	0.91[ASN][1000 genomes]
rs440207	0.93[ASN][1000 genomes]
rs442400	0.86[EUR][1000 genomes]
rs444774	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs446763	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs452332	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4819168	0.94[ASN][1000 genomes]
rs7277160	0.93[ASN][1000 genomes]
rs7281225	0.85[EUR][1000 genomes]
rs7281469	0.82[EUR][1000 genomes]
rs7281622	0.81[EUR][1000 genomes]
rs7281638	0.82[EUR][1000 genomes]
rs7283763	0.85[EUR][1000 genomes]
rs9975216	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
12	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
13	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
14	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
15	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
16	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
17	nsv1062386	chr21:47314890-47343364	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
18	nsv587865	chr21:47317069-47331964	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
19	nsv1061940	chr21:47317456-47343364	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
20	nsv1063852	chr21:47317456-47358709	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
21	nsv1060235	chr21:47317456-47360544	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
22	esv3355743	chr21:47328549-47331397	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	esv3508140	chr21:47328974-47331197	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	esv3508142	chr21:47328974-47331197	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	esv3390518	chr21:47329274-47330722	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47321800-47333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:47321800-47337800	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47322200-47335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:47325000-47331400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:47325600-47335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:47326000-47330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:47326200-47333000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:47327000-47335600	Weak transcription	Fetal Thymus	thymus
11	chr21:47327200-47331200	Enhancers	Fetal Heart	heart
12	chr21:47328400-47331200	Enhancers	Spleen	Spleen
13	chr21:47329000-47330400	Enhancers	Esophagus	oesophagus
14	chr21:47329000-47331000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:47329200-47331200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:47329400-47334400	Strong transcription	Thymus	Thymus
17	chr21:47329600-47333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47330000-47330800	Enhancers	Brain Germinal Matrix	brain
19	chr21:47330000-47331000	Enhancers	Brain Substantia Nigra	brain
20	chr21:47330200-47330400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:47330200-47330400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:47330200-47330400	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr21:47330200-47330400	Enhancers	Right Ventricle	heart
24	chr21:47330200-47330600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:47330200-47330600	Enhancers	Adipose Nuclei	Adipose
26	chr21:47330200-47330600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr21:47330200-47330600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr21:47330200-47330600	Enhancers	Fetal Lung	lung
29	chr21:47330200-47330600	Enhancers	Fetal Muscle Leg	muscle
30	chr21:47330200-47330600	Enhancers	HMEC	breast
31	chr21:47330200-47330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:47330200-47330800	Enhancers	Brain Cingulate Gyrus	brain
33	chr21:47330200-47330800	Enhancers	Brain Hippocampus Middle	brain
34	chr21:47330200-47330800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr21:47330200-47330800	Enhancers	Fetal Stomach	stomach
36	chr21:47330200-47330800	Enhancers	Left Ventricle	heart
37	chr21:47330200-47330800	Enhancers	Stomach Smooth Muscle	stomach
38	chr21:47330200-47331000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr21:47330200-47331000	Enhancers	Brain Anterior Caudate	brain

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