Variant report

Variant	rs300573
Chromosome Location	chr4:124322633-124322634
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124321330..124323743-chr4:124325294..124328181,3	K562	blood:
2	chr4:124317259..124319394-chr4:124319799..124323152,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13150612	0.82[ASN][1000 genomes]
rs28477228	0.83[ASN][1000 genomes]
rs28514996	0.82[ASN][1000 genomes]
rs300572	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs300574	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4833277	0.83[ASN][1000 genomes]
rs4833278	0.82[ASN][1000 genomes]
rs9992811	0.82[ASN][1000 genomes]

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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124317200-124323000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:124317400-124322800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:124317400-124322800	Active TSS	Aorta	Aorta
4	chr4:124317400-124322800	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:124317400-124322800	Active TSS	NHLF	lung
6	chr4:124317400-124323200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:124317400-124327000	Active TSS	Right Atrium	heart
8	chr4:124317600-124322800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:124317600-124322800	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:124317600-124322800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr4:124317600-124322800	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:124317600-124323000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:124318800-124324600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:124318800-124327000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:124320000-124322800	Active TSS	Right Ventricle	heart
16	chr4:124320200-124322800	Active TSS	Fetal Stomach	stomach
17	chr4:124320200-124324600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
18	chr4:124320400-124322800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr4:124320800-124322800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:124320800-124322800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:124321000-124322800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:124321000-124323000	Weak transcription	Spleen	Spleen
23	chr4:124321000-124324000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:124321200-124322800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:124321200-124322800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:124321200-124323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:124321200-124324600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
28	chr4:124321400-124322800	Weak transcription	Esophagus	oesophagus
29	chr4:124321400-124323000	Weak transcription	Pancreas	Pancrea
30	chr4:124321400-124323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:124321400-124323200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr4:124321400-124337200	Weak transcription	A549	lung
33	chr4:124321600-124322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:124321600-124323000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:124321600-124323000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:124321600-124323000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:124321600-124323200	Weak transcription	Placenta	Placenta
38	chr4:124321600-124323800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:124321600-124326400	Weak transcription	Liver	Liver
40	chr4:124321600-124328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:124321600-124328000	Weak transcription	Small Intestine	intestine
42	chr4:124321800-124322800	Weak transcription	Primary B cells from cord blood	blood
43	chr4:124321800-124322800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:124321800-124323200	Weak transcription	HSMM	muscle
45	chr4:124321800-124324200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:124321800-124337400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:124322000-124322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:124322000-124322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:124322000-124322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:124322000-124322800	Weak transcription	Lung	lung

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