Variant report

Variant	rs60396302
Chromosome Location	chr13:38135284-38135285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11840960	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12428760	0.93[EUR][1000 genomes]
rs12585355	0.90[ASN][1000 genomes]
rs17056105	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17056258	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1924293	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35092366	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41473348	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57400150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59664730	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6563562	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73452525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73452550	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73452553	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73452556	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7997479	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9532083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547949	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547952	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547955	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547956	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547971	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547972	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547973	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547975	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547982	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547984	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv818956	chr13:38131993-38153351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38132800-38135600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38133000-38135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:38133000-38138600	Weak transcription	Fetal Lung	lung
4	chr13:38133400-38154800	Weak transcription	Fetal Stomach	stomach
5	chr13:38133800-38138000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:38134000-38149600	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:38134000-38153800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:38134200-38135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:38134600-38143600	Weak transcription	Placenta	Placenta
10	chr13:38135000-38135800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:38135000-38136600	Weak transcription	NH-A	brain
12	chr13:38135200-38135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:38135200-38135800	Enhancers	NHEK	skin
14	chr13:38135200-38168800	Strong transcription	Osteobl	bone

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