Variant report

Variant	rs55749947
Chromosome Location	chr1:186792836-186792837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10752972	1.00[ASN][1000 genomes]
rs12088741	1.00[ASN][1000 genomes]
rs12738146	1.00[ASN][1000 genomes]
rs1883272	1.00[ASN][1000 genomes]
rs1997673	1.00[ASN][1000 genomes]
rs2064132	1.00[ASN][1000 genomes]
rs2066823	1.00[ASN][1000 genomes]
rs2066824	1.00[ASN][1000 genomes]
rs2205952	1.00[ASN][1000 genomes]
rs3218622	1.00[ASN][1000 genomes]
rs3218623	1.00[ASN][1000 genomes]
rs3218624	1.00[ASN][1000 genomes]
rs4140563	1.00[ASN][1000 genomes]
rs4648257	1.00[ASN][1000 genomes]
rs4648260	1.00[ASN][1000 genomes]
rs4648262	1.00[ASN][1000 genomes]
rs4648263	1.00[AMR][1000 genomes]
rs4648264	1.00[ASN][1000 genomes]
rs4648265	1.00[ASN][1000 genomes]
rs4648267	1.00[ASN][1000 genomes]
rs4648296	1.00[ASN][1000 genomes]
rs4648297	1.00[ASN][1000 genomes]
rs4648299	1.00[ASN][1000 genomes]
rs4651325	1.00[ASN][1000 genomes]
rs5270	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5271	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5278	1.00[ASN][1000 genomes]
rs56218646	1.00[AMR][1000 genomes]
rs56253891	1.00[ASN][1000 genomes]
rs57412622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61403154	1.00[ASN][1000 genomes]
rs66476634	1.00[ASN][1000 genomes]
rs74134744	1.00[AMR][1000 genomes]
rs74134745	1.00[AMR][1000 genomes]
rs74134986	1.00[ASN][1000 genomes]
rs74134987	1.00[ASN][1000 genomes]
rs74134988	1.00[ASN][1000 genomes]
rs74135000	1.00[ASN][1000 genomes]
rs74137506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74137507	1.00[ASN][1000 genomes]
rs74137508	1.00[ASN][1000 genomes]
rs74137513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7552522	1.00[ASN][1000 genomes]
rs760707	1.00[ASN][1000 genomes]
rs760708	1.00[ASN][1000 genomes]
rs760709	1.00[ASN][1000 genomes]
rs988905	1.00[ASN][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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186789000-186797200	Weak transcription	A549	lung
2	chr1:186789400-186797600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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