Variant report

Variant	rs62355956
Chromosome Location	chr5:107148301-107148302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10515380	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186563	0.87[ASN][1000 genomes]
rs12187616	0.87[ASN][1000 genomes]
rs12513976	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520230	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17160630	0.84[AFR][1000 genomes]
rs17369104	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17435188	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842914	0.82[ASN][1000 genomes]
rs3842915	0.82[ASN][1000 genomes]
rs3843491	0.82[ASN][1000 genomes]
rs3843492	0.82[ASN][1000 genomes]
rs62355954	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864994	0.82[ASN][1000 genomes]
rs7736608	0.82[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	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62355956	FBXL17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107140400-107148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:107144400-107167600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:107144800-107148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:107144800-107150200	Weak transcription	Right Atrium	heart
5	chr5:107146200-107148600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:107146600-107150000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:107146600-107152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:107146800-107149600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:107147200-107148600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:107147400-107149000	Enhancers	Fetal Heart	heart
11	chr5:107147600-107148800	Enhancers	Fetal Stomach	stomach
12	chr5:107147600-107150200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:107147800-107150000	Flanking Active TSS	GM12878-XiMat	blood
14	chr5:107148000-107148400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:107148000-107148600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:107148000-107148600	Enhancers	Left Ventricle	heart
17	chr5:107148000-107148800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:107148000-107148800	Enhancers	Fetal Muscle Trunk	muscle
19	chr5:107148000-107148800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:107148000-107149200	Enhancers	NH-A	brain
21	chr5:107148000-107149400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:107148000-107149400	Enhancers	HSMM	muscle
23	chr5:107148000-107149400	Enhancers	HSMMtube	muscle
24	chr5:107148000-107149600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:107148000-107149600	Enhancers	NHLF	lung
26	chr5:107148000-107150200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:107148200-107148400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:107148200-107148800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:107148200-107149200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:107148200-107149600	Enhancers	NHDF-Ad	bronchial

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