Variant report

Variant	rs74130956
Chromosome Location	chr1:193310282-193310283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16835301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056062	0.84[AFR][1000 genomes]
rs56238040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	1.00[AMR][1000 genomes]
rs60899083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61090037	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701516	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	1.00[AMR][1000 genomes]
rs74130966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:193308000-193317400	Weak transcription	HSMM	muscle
6	chr1:193308200-193310600	Weak transcription	NHDF-Ad	bronchial
7	chr1:193308400-193311600	Enhancers	Fetal Intestine Small	intestine
8	chr1:193309600-193310600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:193310000-193312200	Enhancers	Ovary	ovary
10	chr1:193310200-193310400	Enhancers	Fetal Intestine Large	intestine

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