Variant report

Variant	rs57123319
Chromosome Location	chr1:185788816-185788817
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489714	1.00[EUR][1000 genomes]
rs1124755	1.00[EUR][1000 genomes]
rs12164583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1321671	1.00[EUR][1000 genomes]
rs16824427	1.00[EUR][1000 genomes]
rs16824465	1.00[EUR][1000 genomes]
rs1825398	1.00[EUR][1000 genomes]
rs28666501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28754345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55683049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57775662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58131117	0.86[EUR][1000 genomes]
rs58135888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58140638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58159343	1.00[EUR][1000 genomes]
rs58449767	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58597777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58609803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60134058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61002359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61088604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61103306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61315386	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425001	1.00[EUR][1000 genomes]
rs6425006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657554	1.00[EUR][1000 genomes]
rs6676765	0.86[EUR][1000 genomes]
rs6676937	1.00[EUR][1000 genomes]
rs6685093	1.00[EUR][1000 genomes]
rs6686790	1.00[EUR][1000 genomes]
rs6696804	1.00[EUR][1000 genomes]
rs6698721	0.86[EUR][1000 genomes]
rs73054407	1.00[EUR][1000 genomes]
rs73058398	1.00[EUR][1000 genomes]
rs73058399	1.00[EUR][1000 genomes]
rs73058401	1.00[EUR][1000 genomes]
rs73060462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060467	1.00[EUR][1000 genomes]
rs73060474	1.00[EUR][1000 genomes]
rs73060485	1.00[AMR][1000 genomes]
rs73070601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072009	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73072056	1.00[EUR][1000 genomes]
rs73072059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541361	0.86[EUR][1000 genomes]
rs7547368	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185787200-185792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:185787800-185791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:185788400-185789400	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:185788400-185789600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:185788400-185790800	Enhancers	HUVEC	blood vessel
6	chr1:185788600-185789600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:185788800-185789400	Enhancers	K562	blood

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