Variant report

Variant	rs55822580
Chromosome Location	chr10:18429383-18429384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:18428973-18429425	H1-hESC	embryonic stem cell:	n/a	chr10:18429097-18429106
2	NANOG	chr10:18429270-18429656	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr10:18429136-18429898	IMR90	lung:	n/a	chr10:18429595-18429605
4	SIN3A	chr10:18429003-18430759	H1-hESC	embryonic stem cell:	n/a	chr10:18429498-18429509
5	POLR2A	chr10:18428970-18429837	SK-N-MC	brain:	n/a	n/a
6	MAX	chr10:18429037-18429454	MCF-7	breast:	n/a	chr10:18429097-18429106
7	POLR2A	chr10:18429070-18430413	H1-neurons	neurons:	n/a	n/a
8	MYC	chr10:18429109-18429494	MCF-7	breast:	n/a	n/a
9	REST	chr10:18428956-18430352	H1-neurons	neurons:	n/a	chr10:18429625-18429635 chr10:18430206-18430219 chr10:18429408-18429421 chr10:18429516-18429526 chr10:18429526-18429536
10	RAD21	chr10:18429125-18429461	IMR90	lung:	n/a	chr10:18429272-18429286
11	POLR2A	chr10:18429051-18430912	MCF10A-Er-Src	breast:	n/a	n/a
12	MXI1	chr10:18428856-18430678	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr10:18428910-18429522	IMR90	lung:	n/a	n/a
14	E2F6	chr10:18428968-18430119	H1-hESC	embryonic stem cell:	n/a	chr10:18429953-18429960 chr10:18429626-18429636 chr10:18429619-18429629 chr10:18429927-18429937 chr10:18429421-18429430 chr10:18429594-18429603
15	POLR2A	chr10:18429026-18430250	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr10:18428604-18433025	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr10:18429131-18430026	HEK293	kidney:	n/a	n/a
18	CTBP2	chr10:18428826-18429918	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF263	chr10:18428836-18431493	HEK293-T-REx	kidney:	n/a	chr10:18429889-18429898 chr10:18429606-18429615
20	E2F6	chr10:18428915-18429393	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:18429025-18430110	H1-hESC	embryonic stem cell:	n/a	n/a
22	GATA2	chr10:18428584-18429400	SH-SY5Y	brain:	n/a	n/a
23	TAF1	chr10:18429217-18429458	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:18429357-18429407	HCPEpiC	choroid plexus:	n/a
2	chr10:18429357-18429407	SAEC	small airway:	n/a
3	chr10:18429357-18429407	GM12878	blood:	n/a
4	chr10:18429357-18429407	RPTEC	kidney:	n/a
5	chr10:18429357-18429407	LNCaP	prostate:	n/a
6	chr10:18429357-18429407	ovcar-3	ovarian:	n/a
7	chr10:18429357-18429407	GM19239	blood:	n/a
8	chr10:18429357-18429407	SKMC	muscle:	n/a
9	chr10:18429357-18429407	NB4	blood:	n/a
10	chr10:18429357-18429407	NHBE	bronchial:	n/a
11	chr10:18429357-18429407	GM06990	blood:	n/a
12	chr10:18429357-18429407	HNPCEpiC	eye:	n/a
13	chr10:18429357-18429407	K562	blood:	n/a
14	chr10:18429357-18429407	AG04449	skin:	fetal
15	chr10:18429357-18429407	MCF-7	breast:	n/a
16	chr10:18429357-18429407	HCT-116	colon:	n/a
17	chr10:18429357-18429407	AG04450	lung:	fetal
18	chr10:18429357-18429407	U87	brain:	n/a
19	chr10:18429357-18429407	ECC-1	luminal epithelium:	n/a
20	chr10:18429357-18429407	HCF	heart:	n/a
21	chr10:18429357-18429407	BE2_C	brain:	n/a
22	chr10:18429357-18429407	SK-N-MC	brain:	n/a
23	chr10:18429357-18429407	H1-hESC	embryonic stem cell:	embryo
24	chr10:18429357-18429407	GM12892	blood:	n/a
25	chr10:18429357-18429407	T-47D	breast:	n/a
26	chr10:18429357-18429407	HMEC	breast:	n/a
27	chr10:18429357-18429407	PFSK-1	brain:	n/a
28	chr10:18429357-18429407	IMR90	lung:	fetal
29	chr10:18429357-18429407	HRE	kidney:	n/a
30	chr10:18429357-18429407	BJ	skin:	n/a
31	chr10:18429357-18429407	HRPEpiC	eye:	n/a
32	chr10:18429357-18429407	HepG2	liver:	n/a
33	chr10:18429357-18429407	CMK	blood:	n/a
34	chr10:18429357-18429407	HL-60	blood:	n/a
35	chr10:18429357-18429407	Jurkat	blood:	n/a
36	chr10:18429357-18429407	Hela-S3	cervix:	n/a
37	chr10:18429357-18429407	HRCEpiC	kidney:	n/a
38	chr10:18429357-18429407	PANC-1	pancreas:	n/a
39	chr10:18429357-18429407	NT2-D1	testis:	n/a
40	chr10:18429357-18429407	MCF10A-Er-Src	breast:	n/a
41	chr10:18429357-18429407	A549	lung:	n/a
42	chr10:18429357-18429407	ProgFib	skin:	n/a
43	chr10:18429357-18429407	NHDF-neo	bronchial:	n/a
44	chr10:18429357-18429407	Hepatocyte	liver:	n/a
45	chr10:18429357-18429407	SK-N-SH	brain:	n/a
46	chr10:18429357-18429407	PrEC	prostate:	n/a
47	chr10:18429357-18429407	HCM	heart:	n/a
48	chr10:18429357-18429407	HPAEpiC	pulmonary alveolar:	n/a
49	chr10:18429357-18429407	AG09319	gingival:	n/a
50	chr10:18429357-18429407	NH-A	brain:	n/a

No data

Variant related genes	Relation type
CACNB2	TF binding region
CACNB2	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12572404	0.86[EUR][1000 genomes]
rs57831826	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58055243	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60689569	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60858250	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61545603	0.90[EUR][1000 genomes]
rs61842427	0.90[EUR][1000 genomes]
rs61842428	0.90[EUR][1000 genomes]
rs61842432	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61842434	0.83[ASN][1000 genomes]
rs61842437	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61842438	0.90[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18428600-18429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:18428600-18429800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr10:18428600-18430400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr10:18428600-18430800	Active TSS	Pancreas	Pancrea
5	chr10:18428600-18431200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:18428600-18431200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr10:18428600-18431200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:18428800-18429400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
9	chr10:18428800-18429400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr10:18428800-18429400	Bivalent Enhancer	Lung	lung
11	chr10:18428800-18429600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
12	chr10:18428800-18429600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
13	chr10:18428800-18430000	Bivalent/Poised TSS	HSMM	muscle
14	chr10:18428800-18430200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:18428800-18430400	Bivalent Enhancer	Liver	Liver
16	chr10:18428800-18430600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr10:18428800-18430600	Active TSS	Brain Angular Gyrus	brain
18	chr10:18428800-18430600	Bivalent/Poised TSS	NHDF-Ad	bronchial
19	chr10:18428800-18430800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:18428800-18430800	Active TSS	Brain Substantia Nigra	brain
21	chr10:18428800-18431000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:18428800-18431000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr10:18428800-18431200	Active TSS	Aorta	Aorta
24	chr10:18428800-18431200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:18428800-18431200	Active TSS	Ovary	ovary
26	chr10:18428800-18431400	Active TSS	Right Atrium	heart
27	chr10:18428800-18431400	Active TSS	Right Ventricle	heart
28	chr10:18428800-18431600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr10:18429000-18429400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:18429000-18429400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:18429000-18429400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:18429000-18429400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:18429000-18429400	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr10:18429000-18429800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:18429000-18429800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr10:18429000-18430000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:18429000-18430000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:18429000-18430000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr10:18429000-18430000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr10:18429000-18430000	Active TSS	NHLF	lung
41	chr10:18429000-18430400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:18429000-18430400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:18429000-18430400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:18429000-18430400	Active TSS	Duodenum Mucosa	Duodenum
45	chr10:18429000-18430400	Active TSS	Small Intestine	intestine
46	chr10:18429000-18430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:18429000-18430600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:18429000-18430600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr10:18429000-18430600	Active TSS	Fetal Kidney	kidney
50	chr10:18429000-18430800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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