Variant report

Variant	rs72670583
Chromosome Location	chr4:124732647-124732648
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12233664	0.83[AFR][1000 genomes]
rs12233817	0.83[AFR][1000 genomes]
rs1425417	0.83[AFR][1000 genomes]
rs57187481	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72670547	0.83[AFR][1000 genomes]
rs72670548	0.83[AFR][1000 genomes]
rs72670562	0.83[AFR][1000 genomes]
rs72670563	0.83[AFR][1000 genomes]
rs72670565	0.83[AFR][1000 genomes]
rs72670567	0.83[AFR][1000 genomes]
rs72670569	0.83[AFR][1000 genomes]
rs72670571	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72670577	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72670580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72670594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72670595	0.82[AMR][1000 genomes]
rs72670599	0.82[AMR][1000 genomes]
rs919014	0.83[AFR][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	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	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124723800-124733000	Weak transcription	Psoas Muscle	Psoas
2	chr4:124724000-124733000	Weak transcription	Left Ventricle	heart
3	chr4:124724200-124736000	Weak transcription	Aorta	Aorta
4	chr4:124731400-124732800	Weak transcription	Fetal Kidney	kidney
5	chr4:124731600-124741000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:124732200-124732800	Enhancers	Primary B cells from cord blood	blood
7	chr4:124732200-124732800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr4:124732400-124732800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:124732400-124732800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:124732400-124732800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:124732400-124732800	Enhancers	Fetal Lung	lung
12	chr4:124732400-124733000	Enhancers	Adipose Nuclei	Adipose
13	chr4:124732400-124733000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:124732400-124733000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:124732400-124733000	Enhancers	NHLF	lung
16	chr4:124732400-124733200	Enhancers	Fetal Stomach	stomach
17	chr4:124732400-124733600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:124732600-124732800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:124732600-124733000	Active TSS	NHDF-Ad	bronchial
20	chr4:124732600-124733200	Active TSS	Primary hematopoietic stem cells	blood
21	chr4:124732600-124733400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:124732600-124733400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:124732600-124733600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:124732600-124733600	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:124732600-124733600	Enhancers	Stomach Mucosa	stomach

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