Variant report

Variant	rs2053357
Chromosome Location	chr5:124470898-124470899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10044704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061454	0.81[AFR][1000 genomes]
rs1030951	0.84[AFR][1000 genomes]
rs13182079	0.83[AFR][1000 genomes]
rs1550355	0.84[AFR][1000 genomes]
rs1550367	0.84[AFR][1000 genomes]
rs1550368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429850	0.95[AFR][1000 genomes]
rs4836152	0.84[AFR][1000 genomes]
rs6595579	0.89[AFR][1000 genomes]
rs6889068	0.81[AFR][1000 genomes]
rs7725529	1.00[AMR][1000 genomes]
rs9327350	0.84[AFR][1000 genomes]
rs9327352	0.81[AFR][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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:124468200-124472000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:124469400-124472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:124469800-124471000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:124469800-124471000	Enhancers	Osteobl	bone
6	chr5:124469800-124471400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:124469800-124471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:124469800-124471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:124469800-124471400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:124469800-124471400	Enhancers	HSMMtube	muscle
11	chr5:124470000-124471000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:124470000-124471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:124470000-124471000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:124470000-124471000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:124470000-124471000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:124470000-124471000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:124470000-124471000	Enhancers	Brain Anterior Caudate	brain
18	chr5:124470000-124471000	Enhancers	Brain Substantia Nigra	brain
19	chr5:124470000-124471000	Enhancers	NHDF-Ad	bronchial
20	chr5:124470000-124471200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:124470000-124471400	Enhancers	HMEC	breast
22	chr5:124470000-124471400	Enhancers	NH-A	brain
23	chr5:124470000-124471600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:124470000-124472000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:124470200-124471000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:124470200-124471400	Enhancers	HSMM	muscle
27	chr5:124470800-124473000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:124470800-124476400	Weak transcription	HUVEC	blood vessel

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