Variant report

Variant	rs72670547
Chromosome Location	chr4:124665791-124665792
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12233664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12233817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1425417	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16997760	1.00[EUR][1000 genomes]
rs17007233	1.00[EUR][1000 genomes]
rs17007251	1.00[EUR][1000 genomes]
rs17007390	0.88[AMR][1000 genomes]
rs67776518	1.00[EUR][1000 genomes]
rs72670538	1.00[EUR][1000 genomes]
rs72670539	1.00[EUR][1000 genomes]
rs72670548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670562	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670563	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670565	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670567	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670569	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670571	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72670577	0.83[AFR][1000 genomes]
rs72670580	0.83[AFR][1000 genomes]
rs72670583	0.83[AFR][1000 genomes]
rs72670584	0.83[AFR][1000 genomes]
rs72670586	0.83[AFR][1000 genomes]
rs72670591	0.83[AFR][1000 genomes]
rs919014	1.00[AFR][1000 genomes];0.88[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124651000-124666000	Weak transcription	Psoas Muscle	Psoas
2	chr4:124662800-124666000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:124663400-124665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:124663400-124665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:124663400-124666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:124663400-124666000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:124663600-124666000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:124663600-124666000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:124664400-124667200	Enhancers	Fetal Brain Male	brain
11	chr4:124664600-124667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:124664800-124665800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:124664800-124666000	Weak transcription	Fetal Intestine Large	intestine
14	chr4:124664800-124666600	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:124664800-124667200	Enhancers	Colon Smooth Muscle	Colon
16	chr4:124664800-124667200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:124665000-124666600	Enhancers	Adipose Nuclei	Adipose
18	chr4:124665000-124666600	Enhancers	Fetal Brain Female	brain
19	chr4:124665000-124667200	Enhancers	Fetal Intestine Small	intestine
20	chr4:124665200-124666000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:124665200-124666400	Enhancers	Fetal Kidney	kidney
22	chr4:124665200-124666600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:124665200-124670600	Weak transcription	HSMM	muscle
24	chr4:124665400-124665800	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:124665400-124665800	Weak transcription	Small Intestine	intestine
26	chr4:124665400-124666000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:124665400-124666200	Enhancers	Liver	Liver
28	chr4:124665400-124666600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:124665600-124666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:124665600-124666600	Enhancers	Primary hematopoietic stem cells	blood
31	chr4:124665600-124667400	Enhancers	Fetal Lung	lung

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