Variant report

Variant	rs9600515
Chromosome Location	chr13:76236479-76236480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10507833	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11617360	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12427985	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430746	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12869054	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1323693	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1575478	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1924176	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1983818	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2281763	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs33991813	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34222504	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34512564	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34939695	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35915164	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61958092	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61958094	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337929	0.81[ASN][1000 genomes]
rs9565180	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9573606	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9573608	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9593111	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593112	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9593115	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600518	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9600521	0.91[AMR][1000 genomes];0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9600515	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 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	chr13:76223200-76236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:76231400-76240400	Weak transcription	HSMMtube	muscle
6	chr13:76231400-76240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:76231800-76240600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:76233800-76240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:76234000-76237200	Enhancers	NHDF-Ad	bronchial
10	chr13:76234000-76237200	Genic enhancers	Osteobl	bone
11	chr13:76234400-76236800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:76234400-76238400	Weak transcription	NH-A	brain
13	chr13:76234600-76236600	Genic enhancers	HSMM	muscle
14	chr13:76234600-76236800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:76234800-76236800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:76234800-76237200	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr13:76235600-76236800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:76235600-76236800	Enhancers	HepG2	liver
19	chr13:76235800-76236800	Weak transcription	GM12878-XiMat	blood
20	chr13:76235800-76237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76235800-76237200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
23	chr13:76236000-76236600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:76236000-76240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:76236000-76240200	Weak transcription	NHLF	lung
26	chr13:76236000-76249200	Weak transcription	Ovary	ovary
27	chr13:76236200-76236600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76236200-76236600	Weak transcription	Psoas Muscle	Psoas
29	chr13:76236400-76236600	Enhancers	Pancreas	Pancrea
30	chr13:76236400-76237200	Enhancers	Liver	Liver
31	chr13:76236400-76237200	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links