Variant report

Variant	rs72718463
Chromosome Location	chr14:66533457-66533458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55696951	0.81[EUR][1000 genomes]
rs55764851	0.81[EUR][1000 genomes]
rs55899836	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56032986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56362186	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718445	0.81[EUR][1000 genomes]
rs72718458	0.81[EUR][1000 genomes]
rs72718460	0.81[EUR][1000 genomes]
rs72718472	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718473	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718474	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718475	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718476	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718477	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718480	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718483	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718491	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718492	0.88[EUR][1000 genomes]
rs72720409	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66531000-66535200	Enhancers	Brain Germinal Matrix	brain
2	chr14:66531400-66535800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:66531600-66534000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:66531600-66536200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:66531800-66533600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:66532200-66535000	Enhancers	Fetal Stomach	stomach
7	chr14:66532200-66536800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:66532200-66537000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:66532600-66534200	Weak transcription	Fetal Brain Female	brain
10	chr14:66532800-66537400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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