Variant report

Variant	rs421930
Chromosome Location	chr6:4569648-4569649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4334813..4337787-chr6:4569506..4572040,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP40-11	chr6:4569482-4569693	NONHSAT107453

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11751457	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756102	0.85[EUR][1000 genomes]
rs11962754	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964427	0.87[EUR][1000 genomes]
rs17138527	1.00[ASN][1000 genomes]
rs17138534	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17138543	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2143455	1.00[ASN][1000 genomes]
rs2235724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235726	1.00[ASN][1000 genomes]
rs2235727	0.91[ASN][1000 genomes]
rs377207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378901	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390617	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400405	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403448	0.87[EUR][1000 genomes]
rs413716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418563	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438021	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959306	1.00[ASN][1000 genomes]
rs4960004	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960005	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960006	1.00[ASN][1000 genomes]
rs4960009	0.91[EUR][1000 genomes]
rs601192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384944	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6911463	0.94[EUR][1000 genomes]
rs6912325	0.87[EUR][1000 genomes]
rs6913171	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328261	0.91[ASN][1000 genomes]
rs9328262	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502199	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502200	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502202	1.00[ASN][1000 genomes]
rs9502204	1.00[ASN][1000 genomes]
rs9502205	1.00[ASN][1000 genomes]
rs9502206	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504152	1.00[ASN][1000 genomes]
rs9504154	1.00[ASN][1000 genomes]
rs9504156	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504159	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9504160	1.00[ASN][1000 genomes]
rs9504163	0.93[EUR][1000 genomes]
rs9504165	0.92[EUR][1000 genomes]
rs9504166	0.92[EUR][1000 genomes]
rs9504168	0.86[EUR][1000 genomes]
rs9504169	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv525377	chr6:4569182-4572377	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	esv17835	chr6:4569272-4572127	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4560000-4572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:4568000-4575800	Weak transcription	Osteobl	bone
4	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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