Variant report

Variant	rs9600517
Chromosome Location	chr13:76237724-76237725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1006408	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10507832	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11616974	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1323692	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1570542	0.85[ASN][1000 genomes]
rs1951832	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4885336	0.89[ASN][1000 genomes]
rs55825533	0.80[ASN][1000 genomes]
rs7995740	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7996197	0.82[ASN][1000 genomes]
rs9285297	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9318364	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9593109	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600511	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9600517	RP11-173B14.5	cis	Skin Sun Exposed Lower leg	GTEx
rs9600517	RP11-173B14.5	cis	Artery Aorta	GTEx
rs9600517	RP11-173B14.5	cis	lung	GTEx
rs9600517	RP11-173B14.5	cis	Nerve Tibial	GTEx
rs9600517	RP11-173B14.5	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76212400-76240400	Weak transcription	HMEC	breast
2	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
3	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:76231400-76240400	Weak transcription	HSMMtube	muscle
5	chr13:76231400-76240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:76231800-76240600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:76233800-76240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:76234400-76238400	Weak transcription	NH-A	brain
9	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
10	chr13:76236000-76240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:76236000-76240200	Weak transcription	NHLF	lung
12	chr13:76236000-76249200	Weak transcription	Ovary	ovary
13	chr13:76236600-76240600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:76236600-76240600	Weak transcription	HSMM	muscle
15	chr13:76236800-76239800	Weak transcription	Psoas Muscle	Psoas
16	chr13:76236800-76240400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76236800-76240400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:76236800-76240600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:76236800-76240800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:76237200-76239200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:76237200-76240000	Weak transcription	Osteobl	bone
23	chr13:76237200-76240200	Weak transcription	NHDF-Ad	bronchial
24	chr13:76237200-76240400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:76237200-76248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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