Variant report

Variant	rs57880872
Chromosome Location	chr5:56949858-56949859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13360093	1.00[EUR][1000 genomes]
rs55836829	1.00[EUR][1000 genomes]
rs6880713	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085582	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830309	chr5:56837590-56978283	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56946800-56961200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:56948200-56950200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:56948400-56950200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:56948400-56950600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:56948400-56950600	Enhancers	Fetal Heart	heart
6	chr5:56948600-56950000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:56948600-56951000	Enhancers	Liver	Liver
8	chr5:56949200-56950200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:56949200-56950400	Enhancers	Brain Hippocampus Middle	brain
10	chr5:56949400-56950000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:56949400-56950200	Enhancers	HSMM	muscle
12	chr5:56949400-56950400	Enhancers	Brain Angular Gyrus	brain
13	chr5:56949400-56950400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:56949400-56950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:56949600-56950000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:56949600-56950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:56949600-56950000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:56949600-56950200	Enhancers	Adipose Nuclei	Adipose
19	chr5:56949600-56950200	Enhancers	Brain Anterior Caudate	brain
20	chr5:56949600-56950200	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr5:56949600-56950200	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:56949600-56950200	Flanking Active TSS	HSMMtube	muscle
23	chr5:56949600-56950400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:56949600-56950600	Enhancers	Brain Germinal Matrix	brain
25	chr5:56949600-56950800	Enhancers	Right Ventricle	heart
26	chr5:56949800-56950000	Enhancers	Aorta	Aorta
27	chr5:56949800-56950000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:56949800-56950200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:56949800-56950200	Enhancers	Psoas Muscle	Psoas

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