Variant report

Variant	rs1449430
Chromosome Location	chr14:85636110-85636111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12100468	0.98[ASN][1000 genomes]
rs12435632	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12879255	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892485	0.83[ASN][1000 genomes]
rs12895341	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12897852	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1375568	0.93[ASN][1000 genomes]
rs1375569	0.93[ASN][1000 genomes]
rs1449411	0.97[ASN][1000 genomes]
rs1449413	0.96[ASN][1000 genomes]
rs1449431	1.00[ASN][1000 genomes]
rs1667543	0.96[ASN][1000 genomes]
rs17120779	0.80[ASN][1000 genomes]
rs1767423	0.95[ASN][1000 genomes]
rs17796484	0.80[ASN][1000 genomes]
rs2372841	0.81[ASN][1000 genomes]
rs2372846	0.95[ASN][1000 genomes]
rs2888426	0.80[ASN][1000 genomes]
rs36080287	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4243673	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4904236	0.98[ASN][1000 genomes]
rs7143105	0.95[ASN][1000 genomes]
rs7151475	0.97[ASN][1000 genomes]
rs7152160	0.97[ASN][1000 genomes]
rs72685722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73324017	0.88[AFR][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	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1048026	chr14:85330544-85686322	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv565423	chr14:85427846-85638746	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1037755	chr14:85618698-85670532	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
7	nsv1053875	chr14:85618698-85673619	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
8	nsv1036755	chr14:85620570-85670532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	nsv456356	chr14:85622710-85664479	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	nsv565426	chr14:85622710-85664479	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85634400-85638000	Weak transcription	NHEK	skin
2	chr14:85634400-85638200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:85635200-85636200	Weak transcription	Fetal Brain Male	brain
4	chr14:85635600-85636600	Weak transcription	Fetal Brain Female	brain

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