Variant report

Variant	rs10507833
Chromosome Location	chr13:76226139-76226140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11617360	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427985	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12430746	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12869054	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1323693	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1575478	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1924176	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1983818	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2281763	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33991813	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34222504	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34512564	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34939695	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35915164	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61958092	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61958094	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9565180	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9573606	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9573608	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9593111	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9593112	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9593115	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9600515	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600518	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9600521	0.86[AMR][1000 genomes];0.88[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
rs10507833	UCHL3	cis	parietal	SCAN
rs10507833	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	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
2	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:76211600-76235600	Weak transcription	Ovary	ovary
4	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
5	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
6	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
7	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76212400-76240400	Weak transcription	HMEC	breast
9	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
10	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
11	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:76222000-76226400	Weak transcription	Fetal Brain Male	brain
14	chr13:76222000-76226400	Strong transcription	HSMM	muscle
15	chr13:76222000-76230000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:76223000-76233200	Weak transcription	Primary B cells from cord blood	blood
17	chr13:76223200-76230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:76223200-76236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:76223400-76226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:76223400-76227000	Weak transcription	NH-A	brain
21	chr13:76223400-76230800	Weak transcription	HSMMtube	muscle
22	chr13:76223600-76227200	Enhancers	NHDF-Ad	bronchial
23	chr13:76223600-76228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:76223800-76230200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:76224600-76232400	Genic enhancers	Osteobl	bone
26	chr13:76224800-76226400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:76225000-76227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:76225600-76227800	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr13:76225800-76226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:76225800-76228600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:76226000-76228400	Weak transcription	NHLF	lung

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