Variant report

Variant	rs9593115
Chromosome Location	chr13:76243531-76243532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507833	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11617360	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12427985	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12430746	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12869054	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1323693	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1575478	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1924176	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2281763	0.81[AMR][1000 genomes]
rs33991813	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34222504	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34512564	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34939695	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35915164	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61958092	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61958094	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7337929	0.94[ASN][1000 genomes]
rs7991517	0.87[ASN][1000 genomes]
rs9565180	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9573606	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9573608	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9593111	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9593112	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9600515	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600518	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9600521	0.92[AMR][1000 genomes];0.94[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9593115	RP11-173B14.5	cis	Artery Tibial	GTEx
rs9593115	UCHL3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
4	chr13:76236000-76249200	Weak transcription	Ovary	ovary
5	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76237200-76248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76240600-76244600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:76241200-76243600	Weak transcription	Psoas Muscle	Psoas
9	chr13:76241200-76255600	Weak transcription	HSMMtube	muscle
10	chr13:76242200-76244400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:76242400-76247800	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr13:76242600-76244800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:76242600-76244800	Enhancers	NHDF-Ad	bronchial
14	chr13:76242800-76244800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:76242800-76248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:76243000-76244600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:76243000-76244600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:76243000-76244800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:76243000-76244800	Enhancers	Osteobl	bone
20	chr13:76243000-76245200	Enhancers	NH-A	brain
21	chr13:76243000-76246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:76243200-76243800	Strong transcription	HSMM	muscle
23	chr13:76243200-76245400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:76243400-76243800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:76243400-76243800	Weak transcription	NHLF	lung

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