Variant report

Variant	rs8132069
Chromosome Location	chr21:40032611-40032612
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	BACH1	chr21:40032298-40033018	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr21:40032494-40033110	H1-hESC	embryonic stem cell:	n/a	chr21:40032687-40032700 chr21:40032692-40032702
3	HDAC2	chr21:40032516-40033158	MCF-7	breast:	n/a	n/a
4	E2F6	chr21:40032297-40033764	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515
5	TCF12	chr21:40032256-40033044	ECC-1	luminal epithelium:	n/a	n/a
6	SUZ12	chr21:40031839-40033787	NT2-D1	testis:	n/a	n/a
7	EGR1	chr21:40032426-40033060	ECC-1	luminal epithelium:	n/a	chr21:40032687-40032700 chr21:40032692-40032702
8	EGR1	chr21:40032555-40032878	K562	blood:	n/a	chr21:40032687-40032700 chr21:40032692-40032702
9	MAX	chr21:40032192-40033108	ECC-1	luminal epithelium:	n/a	chr21:40032227-40032237 chr21:40032425-40032434
10	MAX	chr21:40032255-40033077	ECC-1	luminal epithelium:	n/a	chr21:40032425-40032434
11	EGR1	chr21:40032477-40033111	ECC-1	luminal epithelium:	n/a	chr21:40032687-40032700 chr21:40032692-40032702
12	HDAC2	chr21:40032388-40033119	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr21:40032103-40033755	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr21:40032583-40033554	MCF-7	breast:	n/a	chr21:40032692-40032701
15	MAX	chr21:40032251-40033696	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427 chr21:40032425-40032434
16	ZNF263	chr21:40032382-40033668	HEK293-T-REx	kidney:	n/a	chr21:40032920-40032941 chr21:40033351-40033360
17	MAX	chr21:40032486-40033693	MCF-7	breast:	n/a	chr21:40033420-40033427
18	EGR1	chr21:40032519-40033160	MCF-7	breast:	n/a	chr21:40032687-40032700 chr21:40032692-40032702
19	POLR2A	chr21:40032604-40033159	HL-60	blood:	n/a	n/a
20	POLR2A	chr21:40032384-40032847	H1-neurons	neurons:	n/a	n/a
21	E2F6	chr21:40032301-40033673	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515

Variant related genes	Relation type
ERG	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11701577	0.89[EUR][1000 genomes]
rs11702165	0.88[EUR][1000 genomes]
rs2212606	0.84[EUR][1000 genomes]
rs2836597	0.86[EUR][1000 genomes]
rs2836598	0.87[EUR][1000 genomes]
rs2836602	0.88[EUR][1000 genomes]
rs2836610	0.83[EUR][1000 genomes]
rs2836615	0.82[EUR][1000 genomes]
rs4143428	0.89[EUR][1000 genomes]
rs4514962	0.88[EUR][1000 genomes]
rs55955614	0.88[EUR][1000 genomes]
rs58120977	0.87[EUR][1000 genomes]
rs61085980	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62217513	0.87[EUR][1000 genomes]
rs62217517	0.90[EUR][1000 genomes]
rs62217518	0.90[EUR][1000 genomes]
rs62217519	0.91[EUR][1000 genomes]
rs764482	0.82[EUR][1000 genomes]
rs8130434	0.88[EUR][1000 genomes]
rs991816	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398749	chr21:40030382-40034780	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3440316	chr21:40031607-40034455	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40029800-40034600	Active TSS	Aorta	Aorta
3	chr21:40031200-40034400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40031400-40033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:40031800-40033000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr21:40031800-40033200	Bivalent/Poised TSS	Osteobl	bone
7	chr21:40031800-40033600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr21:40031800-40034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr21:40031800-40034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr21:40031800-40034000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr21:40031800-40034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr21:40032000-40032800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:40032000-40032800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr21:40032000-40032800	Bivalent Enhancer	Placenta	Placenta
15	chr21:40032000-40032800	Bivalent Enhancer	Fetal Thymus	thymus
16	chr21:40032000-40033200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
17	chr21:40032000-40033200	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr21:40032000-40033600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:40032000-40033800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr21:40032000-40033800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr21:40032000-40033800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr21:40032000-40034000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr21:40032000-40034000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr21:40032200-40032800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:40032200-40033000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:40032200-40033000	Flanking Active TSS	Lung	lung
27	chr21:40032200-40033200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40032200-40033400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:40032200-40033400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:40032200-40033400	Active TSS	Right Atrium	heart
31	chr21:40032200-40033600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr21:40032200-40033600	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr21:40032200-40033800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr21:40032200-40033800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:40032200-40033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr21:40032200-40034200	Active TSS	Ovary	ovary
37	chr21:40032400-40032800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr21:40032400-40032800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
39	chr21:40032400-40032800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:40032400-40032800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr21:40032400-40032800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr21:40032400-40032800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr21:40032400-40032800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr21:40032400-40032800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr21:40032400-40033000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr21:40032400-40033000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr21:40032400-40033000	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr21:40032400-40033000	Flanking Active TSS	Pancreas	Pancrea
49	chr21:40032400-40033000	Flanking Active TSS	Right Ventricle	heart
50	chr21:40032400-40033200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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