Variant report

Variant	rs74134980
Chromosome Location	chr1:186723251-186723252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55921572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56090790	1.00[AMR][1000 genomes]
rs56188449	1.00[AMR][1000 genomes]
rs56306057	1.00[AMR][1000 genomes]
rs56810817	1.00[AMR][1000 genomes]
rs60286945	1.00[AMR][1000 genomes]
rs61556660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134742	1.00[AMR][1000 genomes]
rs74134979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134984	1.00[AMR][1000 genomes]
rs74134985	1.00[AMR][1000 genomes]
rs74134986	1.00[AMR][1000 genomes]
rs74134987	1.00[AMR][1000 genomes]
rs74134988	1.00[AMR][1000 genomes]
rs74134990	1.00[AMR][1000 genomes]
rs74134999	1.00[AMR][1000 genomes]
rs74137505	1.00[AMR][1000 genomes]
rs74137509	1.00[AMR][1000 genomes]
rs74137510	1.00[AMR][1000 genomes]
rs74137511	1.00[AMR][1000 genomes]
rs74137512	1.00[AMR][1000 genomes]
rs74137514	1.00[AMR][1000 genomes]
rs74137515	1.00[AMR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186715600-186730800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186721800-186724600	Enhancers	NHDF-Ad	bronchial
3	chr1:186722200-186723400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:186722200-186723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186722600-186723600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:186722600-186723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:186722600-186730800	Weak transcription	A549	lung
8	chr1:186723000-186723400	Weak transcription	Hela-S3	cervix
9	chr1:186723000-186724200	Weak transcription	NHEK	skin

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