Variant report

Variant	rs56306057
Chromosome Location	chr1:186787771-186787772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55921572	1.00[AMR][1000 genomes]
rs56090790	1.00[AMR][1000 genomes]
rs56188449	1.00[AMR][1000 genomes]
rs56810817	1.00[AMR][1000 genomes]
rs59949256	0.84[AFR][1000 genomes]
rs60286945	1.00[AMR][1000 genomes]
rs61556660	1.00[AMR][1000 genomes]
rs74134742	1.00[AMR][1000 genomes]
rs74134979	1.00[AMR][1000 genomes]
rs74134980	1.00[AMR][1000 genomes]
rs74134981	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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137509	1.00[AMR][1000 genomes]
rs74137510	0.91[AFR][1000 genomes];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]
rs74137516	0.91[AFR][1000 genomes]
rs74137518	0.91[AFR][1000 genomes]
rs74137519	0.91[AFR][1000 genomes]
rs74137520	0.91[AFR][1000 genomes]
rs74137521	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv466272	chr1:186742947-186803226	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv548406	chr1:186742947-186803226	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	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	chr1:186781200-186790000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:186782800-186788000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186783000-186788000	Weak transcription	NH-A	brain
4	chr1:186783200-186787800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186783200-186787800	Weak transcription	Osteobl	bone
6	chr1:186784800-186787800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186787000-186788400	Enhancers	GM12878-XiMat	blood
8	chr1:186787200-186787800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:186787200-186789800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:186787400-186789200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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