Variant report

Variant	rs17084062
Chromosome Location	chr4:55091988-55091989
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	CTBP2	chr4:55091201-55094655	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PDGFRA	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17084065	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4311367	1.00[AMR][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55084600-55092800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:55091000-55093800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:55091200-55092000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:55091200-55092200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:55091200-55094600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
6	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr4:55091400-55092000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr4:55091400-55092000	Flanking Active TSS	Ovary	ovary
9	chr4:55091400-55092200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:55091400-55092200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr4:55091400-55092600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:55091400-55092800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr4:55091400-55092800	Bivalent Enhancer	Placenta	Placenta
14	chr4:55091400-55093000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:55091400-55093200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:55091400-55093200	Flanking Active TSS	NHDF-Ad	bronchial
17	chr4:55091400-55094600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:55091400-55094600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr4:55091400-55095000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr4:55091400-55095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:55091400-55096600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:55091600-55092000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr4:55091600-55092000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:55091600-55092000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr4:55091600-55092000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr4:55091600-55092000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:55091600-55092000	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr4:55091600-55092000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
29	chr4:55091600-55092000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr4:55091600-55092200	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr4:55091600-55092200	Bivalent Enhancer	Fetal Heart	heart
32	chr4:55091600-55092200	Bivalent Enhancer	NH-A	brain
33	chr4:55091600-55092400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr4:55091600-55092600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:55091600-55092600	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr4:55091600-55092800	Enhancers	Lung	lung
37	chr4:55091600-55093200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr4:55091600-55093400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:55091600-55093800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:55091600-55093800	Flanking Active TSS	Osteobl	bone
41	chr4:55091600-55094600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr4:55091600-55094800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr4:55091600-55095000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:55091800-55092000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:55091800-55092000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:55091800-55092000	Enhancers	Aorta	Aorta
47	chr4:55091800-55092000	Bivalent Enhancer	Liver	Liver
48	chr4:55091800-55092000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr4:55091800-55092000	Flanking Active TSS	Right Atrium	heart
50	chr4:55091800-55092000	Flanking Active TSS	Right Ventricle	heart

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