Variant report

Variant	rs72670551
Chromosome Location	chr4:124669546-124669547
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17007235	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17007263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424031	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17424600	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17489356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490297	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17755079	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55724213	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56043753	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56142420	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72670541	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670542	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999757	0.93[EUR][1000 genomes];0.84[ASN][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	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
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:124665200-124670600	Weak transcription	HSMM	muscle
3	chr4:124666200-124670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:124666400-124670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:124666400-124670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:124666400-124670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:124666400-124671000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:124666400-124671200	Weak transcription	Fetal Kidney	kidney
9	chr4:124666400-124671200	Weak transcription	Right Atrium	heart
10	chr4:124666600-124669800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:124666600-124670000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:124666600-124670000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:124666600-124670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:124666600-124670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:124666600-124671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:124666600-124671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:124667000-124670000	Weak transcription	Left Ventricle	heart
18	chr4:124667000-124670600	Weak transcription	Lung	lung
19	chr4:124667200-124670000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:124667200-124670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:124667200-124670600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:124667200-124676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:124667400-124670000	Weak transcription	Fetal Lung	lung
24	chr4:124667400-124673200	Weak transcription	Aorta	Aorta
25	chr4:124667800-124670600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:124667800-124672000	Enhancers	Fetal Muscle Leg	muscle
27	chr4:124668200-124671800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:124668200-124671800	Enhancers	Fetal Heart	heart
29	chr4:124668600-124670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:124668600-124670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:124668800-124670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:124668800-124670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:124669400-124671400	Enhancers	Psoas Muscle	Psoas

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