Variant report

Variant	rs17084065
Chromosome Location	chr4:55092241-55092242
allele	A/G
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	CTCF	chr4:55092240-55092390	HVMF	connective:	n/a	n/a
2	CHD1	chr4:55092095-55098811	IMR90	lung:	n/a	chr4:55095204-55095214 chr4:55097509-55097519 chr4:55092863-55092873
3	CTBP2	chr4:55091201-55094655	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr4:55091998-55092834	H1-hESC	embryonic stem cell:	n/a	chr4:55092363-55092371
5	TBP	chr4:55092174-55092484	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF384	chr4:55092105-55092265	K562	blood:	n/a	n/a
7	ZNF384	chr4:55092002-55092273	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54774486..54775433-chr4:55092049..55092635,3	MCF-7	breast:

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]
rs17084062	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:109 , 50 per page) page: 1 2 3

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	chr4:55091200-55094600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
4	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr4:55091400-55092600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:55091400-55092800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr4:55091400-55092800	Bivalent Enhancer	Placenta	Placenta
8	chr4:55091400-55093000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:55091400-55093200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:55091400-55093200	Flanking Active TSS	NHDF-Ad	bronchial
11	chr4:55091400-55094600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:55091400-55094600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr4:55091400-55095000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr4:55091400-55095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:55091400-55096600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:55091600-55092400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr4:55091600-55092600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:55091600-55092600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr4:55091600-55092800	Enhancers	Lung	lung
20	chr4:55091600-55093200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr4:55091600-55093400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:55091600-55093800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:55091600-55093800	Flanking Active TSS	Osteobl	bone
24	chr4:55091600-55094600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr4:55091600-55094800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr4:55091600-55095000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:55091800-55092400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:55091800-55092400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:55091800-55092400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr4:55091800-55092400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:55091800-55092400	Bivalent Enhancer	Fetal Brain Male	brain
32	chr4:55091800-55092400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr4:55091800-55092600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:55091800-55092600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr4:55091800-55092600	Bivalent Enhancer	Fetal Thymus	thymus
36	chr4:55091800-55092800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr4:55091800-55092800	Enhancers	Spleen	Spleen
38	chr4:55091800-55093000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:55091800-55093000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr4:55091800-55093000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
41	chr4:55091800-55093600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr4:55091800-55094600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:55091800-55094600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr4:55091800-55094600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:55091800-55094600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:55091800-55094600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:55091800-55094600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr4:55091800-55094800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr4:55091800-55095400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr4:55092000-55092400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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