Variant report

Variant	rs2143455
Chromosome Location	chr6:4597640-4597641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11751457	1.00[ASN][1000 genomes]
rs11962754	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138527	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138534	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17138543	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235724	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235726	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235727	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs377207	1.00[ASN][1000 genomes]
rs378901	1.00[ASN][1000 genomes]
rs385236	1.00[ASN][1000 genomes]
rs385884	1.00[ASN][1000 genomes]
rs390126	1.00[ASN][1000 genomes]
rs390617	1.00[ASN][1000 genomes]
rs400405	1.00[ASN][1000 genomes]
rs413716	1.00[ASN][1000 genomes]
rs418563	1.00[ASN][1000 genomes]
rs421930	1.00[ASN][1000 genomes]
rs424137	1.00[ASN][1000 genomes]
rs438021	1.00[ASN][1000 genomes]
rs453768	1.00[ASN][1000 genomes]
rs4959306	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960004	1.00[ASN][1000 genomes]
rs4960005	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960006	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601192	1.00[ASN][1000 genomes]
rs62384944	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913171	1.00[ASN][1000 genomes]
rs7764724	0.83[EUR][1000 genomes]
rs84996	0.81[EUR][1000 genomes]
rs9328261	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9328262	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502199	1.00[ASN][1000 genomes]
rs9502200	1.00[ASN][1000 genomes]
rs9502202	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502205	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502206	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502208	0.81[EUR][1000 genomes]
rs9504151	1.00[ASN][1000 genomes]
rs9504152	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504154	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504156	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504159	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9504160	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504163	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4594600-4599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:4594600-4599800	Weak transcription	NHEK	skin
3	chr6:4595000-4600000	Weak transcription	HMEC	breast
4	chr6:4597400-4601000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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