Variant report

Variant	rs72688011
Chromosome Location	chr14:22148141-22148142
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10143830	0.82[AMR][1000 genomes]
rs12431441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12432330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12432570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433499	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12436495	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12436701	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60301742	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686072	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72686076	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72686078	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686082	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686084	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686085	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686086	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72686097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72688028	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688032	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688034	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688037	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688040	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688046	0.84[EUR][1000 genomes]
rs72688047	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
3	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22148000-22148400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:22148000-22148400	Enhancers	HUVEC	blood vessel
3	chr14:22148000-22148800	Enhancers	HSMM	muscle

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