Variant report

Variant	rs10754394
Chromosome Location	chr1:119847024-119847025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10802089	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10923796	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409056	0.81[EUR][1000 genomes]
rs1418024	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1418025	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1891224	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2226102	0.93[EUR][1000 genomes]
rs2243981	0.93[EUR][1000 genomes]
rs2253988	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254528	0.93[EUR][1000 genomes]
rs2254664	0.93[EUR][1000 genomes]
rs2257016	0.93[EUR][1000 genomes]
rs2265628	0.93[EUR][1000 genomes]
rs2885445	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6428814	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6672571	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699771	0.93[EUR][1000 genomes]
rs838514	0.93[EUR][1000 genomes]
rs838515	0.93[EUR][1000 genomes]
rs838516	0.93[EUR][1000 genomes]
rs838517	0.93[EUR][1000 genomes]
rs838519	0.93[EUR][1000 genomes]
rs838520	0.93[EUR][1000 genomes]
rs866788	0.93[EUR][1000 genomes]
rs947422	0.93[EUR][1000 genomes]
rs947423	0.93[EUR][1000 genomes]
rs947424	0.93[EUR][1000 genomes]
rs947425	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv547615	chr1:119828542-119875730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119845600-119847400	Enhancers	Fetal Muscle Trunk	muscle
2	chr1:119846200-119847200	Enhancers	Liver	Liver
3	chr1:119846800-119847200	Flanking Active TSS	NHDF-Ad	bronchial
4	chr1:119847000-119847200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:119847000-119847200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:119847000-119847400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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