Variant report

Variant	rs764482
Chromosome Location	chr21:40033661-40033662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:40033470-40033725	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr21:40033052-40033677	H1-neurons	neurons:	n/a	n/a
3	SIN3A	chr21:40033304-40033661	H1-hESC	embryonic stem cell:	n/a	chr21:40033325-40033338
4	E2F6	chr21:40032297-40033764	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515
5	ZNF143	chr21:40033432-40033704	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr21:40031839-40033787	NT2-D1	testis:	n/a	n/a
7	MAX	chr21:40033136-40033674	A549	lung:	n/a	chr21:40033420-40033427
8	CTBP2	chr21:40032103-40033755	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr21:40033191-40033676	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr21:40032251-40033696	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427 chr21:40032425-40032434
11	ZNF263	chr21:40032382-40033668	HEK293-T-REx	kidney:	n/a	chr21:40032920-40032941 chr21:40033351-40033360
12	MAX	chr21:40032486-40033693	MCF-7	breast:	n/a	chr21:40033420-40033427
13	MAX	chr21:40032780-40033689	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427
14	E2F6	chr21:40032301-40033673	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40033634-40033684	HL-60	blood:	n/a
2	chr21:40033634-40033684	PFSK-1	brain:	n/a
3	chr21:40033634-40033684	HepG2	liver:	n/a
4	chr21:40033634-40033684	LNCaP	prostate:	n/a
5	chr21:40033634-40033684	Hela-S3	cervix:	n/a
6	chr21:40033634-40033684	HCPEpiC	choroid plexus:	n/a
7	chr21:40033634-40033684	SK-N-SH_RA	brain:	n/a
8	chr21:40033634-40033684	ProgFib	skin:	n/a
9	chr21:40033634-40033684	SKMC	muscle:	n/a
10	chr21:40033634-40033684	ECC-1	luminal epithelium:	n/a
11	chr21:40033634-40033684	HRPEpiC	eye:	n/a
12	chr21:40033634-40033684	HUVEC	blood vessel:	n/a
13	chr21:40033634-40033684	PrEC	prostate:	n/a
14	chr21:40033634-40033684	GM19239	blood:	n/a
15	chr21:40033634-40033684	GM12878	blood:	n/a
16	chr21:40033634-40033684	IMR90	lung:	fetal
17	chr21:40033634-40033684	HCF	heart:	n/a
18	chr21:40033634-40033684	RPTEC	kidney:	n/a
19	chr21:40033634-40033684	NT2-D1	testis:	n/a
20	chr21:40033634-40033684	HAEpiC	amniotic membrane:	n/a
21	chr21:40033634-40033684	AG09319	gingival:	n/a
22	chr21:40033634-40033684	SAEC	small airway:	n/a
23	chr21:40033634-40033684	MCF-7	breast:	n/a
24	chr21:40033634-40033684	ovcar-3	ovarian:	n/a
25	chr21:40033634-40033684	GM12892	blood:	n/a
26	chr21:40033634-40033684	U87	brain:	n/a
27	chr21:40033634-40033684	HRE	kidney:	n/a
28	chr21:40033634-40033684	SK-N-SH	brain:	n/a
29	chr21:40033634-40033684	BE2_C	brain:	n/a
30	chr21:40033634-40033684	NB4	blood:	n/a
31	chr21:40033634-40033684	AoSMC	blood vessel:	n/a
32	chr21:40033634-40033684	GM06990	blood:	n/a
33	chr21:40033634-40033684	H1-hESC	embryonic stem cell:	embryo
34	chr21:40033634-40033684	MCF10A-Er-Src	breast:	n/a
35	chr21:40033634-40033684	HNPCEpiC	eye:	n/a
36	chr21:40033634-40033684	HMEC	breast:	n/a
37	chr21:40033634-40033684	AG09309	skin:	n/a
38	chr21:40033634-40033684	HEK293	kidney:	embryo
39	chr21:40033634-40033684	HCT-116	colon:	n/a
40	chr21:40033634-40033684	NHDF-neo	bronchial:	n/a
41	chr21:40033634-40033684	NHBE	bronchial:	n/a
42	chr21:40033634-40033684	PANC-1	pancreas:	n/a
43	chr21:40033634-40033684	Caco-2	colon:	n/a
44	chr21:40033634-40033684	SK-N-MC	brain:	n/a
45	chr21:40033634-40033684	AG04449	skin:	fetal
46	chr21:40033634-40033684	AG04450	lung:	fetal
47	chr21:40033634-40033684	Jurkat	blood:	n/a
48	chr21:40033634-40033684	CMK	blood:	n/a
49	chr21:40033634-40033684	A549	lung:	n/a
50	chr21:40033634-40033684	HRCEpiC	kidney:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERG	TF binding region
ERG	CpG island
ENSG00000183527	Chromatin interaction

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

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

rs_ID	r²[population]
rs11701577	0.91[EUR][1000 genomes]
rs11702165	0.89[EUR][1000 genomes]
rs2212606	0.87[EUR][1000 genomes]
rs2836597	0.87[CHB][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836598	0.89[EUR][1000 genomes]
rs2836602	0.89[EUR][1000 genomes]
rs2836610	0.85[EUR][1000 genomes]
rs2836615	0.84[EUR][1000 genomes]
rs4143428	0.91[EUR][1000 genomes]
rs4514962	0.89[EUR][1000 genomes]
rs55955614	0.89[EUR][1000 genomes]
rs58120977	0.89[EUR][1000 genomes]
rs61085980	0.90[EUR][1000 genomes]
rs62217513	0.89[EUR][1000 genomes]
rs62217517	0.91[EUR][1000 genomes]
rs62217518	0.91[EUR][1000 genomes]
rs62217519	0.87[EUR][1000 genomes]
rs8130434	0.89[EUR][1000 genomes]
rs8132069	0.82[EUR][1000 genomes]
rs991816	0.88[EUR][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:85 , 50 per page) page: 1 2

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	chr21:40031800-40034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr21:40031800-40034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr21:40031800-40034000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr21:40031800-40034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr21:40032000-40033800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr21:40032000-40033800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr21:40032000-40033800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr21:40032000-40034000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr21:40032000-40034000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr21:40032200-40033800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr21:40032200-40033800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40032200-40033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr21:40032200-40034200	Active TSS	Ovary	ovary
18	chr21:40032400-40033800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr21:40032400-40033800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:40032400-40033800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr21:40032400-40033800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:40032400-40034000	Bivalent/Poised TSS	NHEK	skin
26	chr21:40032600-40033800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr21:40032600-40033800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr21:40032600-40033800	Bivalent/Poised TSS	Left Ventricle	heart
29	chr21:40032600-40033800	Bivalent/Poised TSS	A549	lung
30	chr21:40032600-40034200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:40032800-40033800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr21:40032800-40033800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr21:40032800-40034000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr21:40032800-40034000	Active TSS	Fetal Kidney	kidney
35	chr21:40032800-40034200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:40033000-40033800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:40033000-40033800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr21:40033000-40033800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
39	chr21:40033000-40033800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr21:40033000-40033800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr21:40033000-40033800	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr21:40033000-40034000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr21:40033000-40034000	Active TSS	Right Ventricle	heart
44	chr21:40033200-40033800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:40033200-40033800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr21:40033200-40033800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr21:40033200-40033800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr21:40033200-40033800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr21:40033200-40033800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr21:40033200-40033800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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