Variant report

Variant	rs57274818
Chromosome Location	chr14:66513100-66513101
allele	C/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:44)

rs_ID	r²[population]
rs10134858	0.88[ASN][1000 genomes]
rs10142278	0.94[ASN][1000 genomes]
rs10147364	0.88[ASN][1000 genomes]
rs10148230	0.94[ASN][1000 genomes]
rs10498523	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12586140	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588471	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588472	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588493	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588504	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588689	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589766	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589905	0.94[ASN][1000 genomes]
rs12589911	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590440	0.94[ASN][1000 genomes]
rs1273869	0.82[ASN][1000 genomes]
rs1273870	0.94[ASN][1000 genomes]
rs1290796	0.81[ASN][1000 genomes]
rs13379051	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4258536	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4362327	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4489934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4540993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4640111	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899191	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899192	0.94[ASN][1000 genomes]
rs4899193	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899194	0.94[ASN][1000 genomes]
rs4902443	0.88[ASN][1000 genomes]
rs4902444	0.88[ASN][1000 genomes]
rs4902445	0.94[ASN][1000 genomes]
rs4902446	0.94[ASN][1000 genomes]
rs56231619	0.88[ASN][1000 genomes]
rs56314928	0.88[ASN][1000 genomes]
rs56892961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57146489	0.94[ASN][1000 genomes]
rs58000930	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59229824	0.94[ASN][1000 genomes]
rs60238746	0.94[ASN][1000 genomes]
rs61085292	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73278296	0.94[ASN][1000 genomes]
rs73280006	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73280007	0.94[ASN][1000 genomes]
rs768973	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66510400-66513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:66510400-66513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:66512000-66513200	Enhancers	Fetal Muscle Leg	muscle
4	chr14:66512000-66514200	Enhancers	Fetal Heart	heart
5	chr14:66512200-66513400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:66512400-66513200	Enhancers	HSMMtube	muscle
7	chr14:66512400-66513400	Enhancers	Stomach Mucosa	stomach
8	chr14:66512400-66514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:66512600-66513200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:66512600-66513600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:66513000-66513600	Enhancers	Skeletal Muscle Male	skeletal muscle

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