Variant report

Variant	rs33994937
Chromosome Location	chr1:78969987-78969988
allele	C/T
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:31)

rs_ID	r²[population]
rs10489787	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058120	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082394	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094298	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096017	0.82[AFR][1000 genomes]
rs12725125	1.00[ASN][1000 genomes]
rs12740498	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748050	0.97[ASN][1000 genomes]
rs1322933	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322934	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322935	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28832602	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34012602	0.92[ASN][1000 genomes]
rs34077564	1.00[ASN][1000 genomes]
rs34490913	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34528585	1.00[ASN][1000 genomes]
rs34572897	1.00[ASN][1000 genomes]
rs34852041	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123627	1.00[ASN][1000 genomes]
rs35324676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35978825	1.00[ASN][1000 genomes]
rs3766346	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766347	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766348	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766351	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61769118	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672561	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67351117	0.97[ASN][1000 genomes]
rs72673924	1.00[ASN][1000 genomes]
rs72673925	1.00[ASN][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	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv871260	chr1:78957859-78976570	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78962400-78973800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:78963400-78975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:78969600-78971200	Weak transcription	NHDF-Ad	bronchial
4	chr1:78969800-78971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:78969800-78973000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:78969800-78976800	Weak transcription	Muscle Satellite Cultured Cells	--

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