Variant report

Variant	rs4478040
Chromosome Location	chr3:28627334-28627335
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11712484	0.82[CEU][hapmap]
rs11712489	0.84[CEU][hapmap]
rs13075840	0.81[CHB][hapmap]
rs17696783	0.82[CEU][hapmap]
rs4133027	1.00[ASN][1000 genomes]
rs4234338	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234339	0.95[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234340	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4356777	0.88[ASN][1000 genomes]
rs4361241	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4368456	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4521182	0.93[ASN][1000 genomes]
rs4522734	0.92[ASN][1000 genomes]
rs4610188	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4618184	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4680760	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680761	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680762	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6549860	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549861	0.93[ASN][1000 genomes]
rs6789363	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796390	0.91[ASN][1000 genomes]
rs6800426	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7619927	1.00[ASN][1000 genomes]
rs7642049	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643191	0.86[CEU][hapmap]
rs9815067	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9834829	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1015015	chr3:28461972-28728494	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv590010	chr3:28469830-28727214	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr3:28618200-28631200	Weak transcription	Psoas Muscle	Psoas
2	chr3:28618600-28627800	Weak transcription	Aorta	Aorta
3	chr3:28622000-28627400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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