Variant report

Variant	rs370126649
Chromosome Location	chr4:55095020-55095021
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	PBX3	chr4:55094978-55095651	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr4:55093006-55098852	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr4:55092563-55098831	IMR90	lung:	n/a	n/a
4	CTCF	chr4:55093509-55095583	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr4:55094879-55095757	SK-N-SH	brain:	n/a	n/a
6	EP300	chr4:55094951-55095635	SK-N-SH	brain:	n/a	chr4:55095311-55095324 chr4:55095380-55095390 chr4:55095025-55095039 chr4:55095591-55095605
7	CHD1	chr4:55092095-55098811	IMR90	lung:	n/a	chr4:55095204-55095214 chr4:55097509-55097519 chr4:55092863-55092873
8	MAZ	chr4:55092981-55097889	IMR90	lung:	n/a	chr4:55096617-55096627 chr4:55095167-55095177 chr4:55096597-55096607 chr4:55094630-55094639 chr4:55096994-55097003
9	EP300	chr4:55094962-55095618	SK-N-SH_RA	brain:	n/a	chr4:55095311-55095324 chr4:55095380-55095390 chr4:55095025-55095039 chr4:55095591-55095605
10	RAD21	chr4:55092296-55096262	IMR90	lung:	n/a	n/a
11	EP300	chr4:55092934-55096249	SK-N-SH	brain:	n/a	chr4:55095311-55095324 chr4:55095380-55095390 chr4:55095025-55095039 chr4:55095591-55095605
12	TCF12	chr4:55094882-55095680	SK-N-SH	brain:	n/a	n/a
13	CEBPB	chr4:55094274-55095994	IMR90	lung:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
14	GATA3	chr4:55094964-55095738	SK-N-SH	brain:	n/a	n/a
15	SMC3	chr4:55092553-55098497	SK-N-SH	brain:	n/a	chr4:55094171-55094179 chr4:55098142-55098152
16	EP300	chr4:55094940-55095584	SK-N-SH_RA	brain:	n/a	chr4:55095311-55095324 chr4:55095380-55095390 chr4:55095025-55095039
17	RAD21	chr4:55093154-55096143	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:
2	chr4:54774768..54775400-chr4:55094512..55095178,2	MCF-7	breast:

Variant related genes	Relation type
PDGFRA	TF binding region
ENSG00000134853	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr4:55091400-55095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:55091400-55096600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:55091800-55095400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:55092000-55096800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:55092000-55100800	Active TSS	Aorta	Aorta
7	chr4:55092200-55096000	Flanking Active TSS	NH-A	brain
8	chr4:55092400-55097800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:55093000-55095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
12	chr4:55093200-55102000	Active TSS	Ovary	ovary
13	chr4:55093800-55096400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:55093800-55097000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr4:55093800-55097800	Bivalent/Poised TSS	Fetal Lung	lung
16	chr4:55094200-55099000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:55094400-55095200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:55094400-55095200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:55094400-55095400	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr4:55094400-55096000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:55094400-55097000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:55094400-55098000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr4:55094400-55098600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:55094600-55095400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:55094600-55095600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:55094600-55095800	Weak transcription	Esophagus	oesophagus
28	chr4:55094600-55096000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr4:55094600-55096000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:55094600-55096000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:55094600-55096000	Weak transcription	Lung	lung
32	chr4:55094600-55096200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:55094600-55096200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr4:55094600-55096200	Bivalent/Poised TSS	Placenta	Placenta
35	chr4:55094600-55096200	Weak transcription	Pancreas	Pancrea
36	chr4:55094600-55096400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:55094600-55096600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:55094600-55096600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:55094600-55096800	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr4:55094600-55097000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr4:55094600-55097200	Active TSS	Right Atrium	heart
42	chr4:55094600-55097800	Bivalent Enhancer	HUVEC	blood vessel
43	chr4:55094600-55098000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr4:55094600-55098200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr4:55094800-55095200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr4:55094800-55095200	Bivalent Enhancer	NHEK	skin
47	chr4:55094800-55095400	Bivalent Enhancer	Fetal Brain Male	brain
48	chr4:55094800-55095400	Bivalent/Poised TSS	Right Ventricle	heart
49	chr4:55094800-55096000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:55094800-55096200	Bivalent/Poised TSS	Adipose Nuclei	Adipose

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