Variant report

Variant	rs403448
Chromosome Location	chr6:4550572-4550573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11751457	0.86[EUR][1000 genomes]
rs11962754	0.82[EUR][1000 genomes]
rs17138534	0.85[EUR][1000 genomes]
rs2235724	0.85[EUR][1000 genomes]
rs377207	0.87[EUR][1000 genomes]
rs378901	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs385236	0.87[EUR][1000 genomes]
rs385884	0.87[EUR][1000 genomes]
rs390126	0.87[EUR][1000 genomes]
rs390617	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs400405	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs413716	0.87[EUR][1000 genomes]
rs418563	0.87[EUR][1000 genomes]
rs421930	0.87[EUR][1000 genomes]
rs424137	0.87[EUR][1000 genomes]
rs438021	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs453768	0.87[EUR][1000 genomes]
rs4960004	0.87[EUR][1000 genomes]
rs601192	0.87[EUR][1000 genomes]
rs62384944	0.81[EUR][1000 genomes]
rs6911463	0.81[EUR][1000 genomes]
rs6913171	0.87[EUR][1000 genomes]
rs9328262	0.82[EUR][1000 genomes]
rs9502199	0.87[EUR][1000 genomes]
rs9502200	0.87[EUR][1000 genomes]
rs9502206	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9504151	0.87[EUR][1000 genomes]
rs9504156	0.85[EUR][1000 genomes]
rs9504159	0.83[EUR][1000 genomes]
rs9504163	0.81[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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv970369	chr6:4481968-4554947	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:4545200-4552000	Weak transcription	Right Atrium	heart
2	chr6:4546800-4559600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:4550200-4550600	Bivalent Enhancer	HepG2	liver

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