Variant report

Variant	rs10440571
Chromosome Location	chr4:54555390-54555391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54550154..54553144-chr4:54554282..54556557,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13353796	1.00[AMR][1000 genomes]
rs28702938	0.81[AFR][1000 genomes]
rs60502260	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54547800-54556000	Enhancers	NHDF-Ad	bronchial
2	chr4:54550200-54556000	Enhancers	NHLF	lung
3	chr4:54550400-54555600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:54551000-54559800	Weak transcription	Aorta	Aorta
5	chr4:54552000-54555600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:54552600-54555400	Enhancers	Osteobl	bone
7	chr4:54552600-54555600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:54552600-54555800	Enhancers	NH-A	brain
9	chr4:54552600-54556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:54552800-54555600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:54552800-54556800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:54553600-54555600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:54553600-54555600	Enhancers	HSMMtube	muscle
14	chr4:54553600-54556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:54553600-54559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:54553800-54556400	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:54554200-54555800	Enhancers	HMEC	breast
18	chr4:54554400-54556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:54554400-54559400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:54554800-54555600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:54554800-54555600	Enhancers	Right Atrium	heart
22	chr4:54554800-54562000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:54555000-54556200	Enhancers	GM12878-XiMat	blood
24	chr4:54555000-54556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:54555000-54559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:54555000-54560000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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