Variant report

Variant	rs413716
Chromosome Location	chr6:4574303-4574304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4573120..4575924-chr6:4578723..4580637,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11751457	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756102	0.91[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs11962754	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964426	0.91[CEU][hapmap]
rs11964427	0.87[EUR][1000 genomes]
rs17138527	1.00[ASN][1000 genomes]
rs17138534	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	0.86[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	0.81[AFR][1000 genomes];0.93[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	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385884	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390126	0.81[AFR][1000 genomes];0.93[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]
rs418563	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421930	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424137	0.93[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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959306	1.00[ASN][1000 genomes]
rs4960004	1.00[AFR][1000 genomes];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	0.81[AFR][1000 genomes];0.93[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	0.91[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];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	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392607	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9502199	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502200	0.86[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	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502208	0.90[GIH][hapmap]
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	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504159	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9504160	1.00[ASN][1000 genomes]
rs9504163	0.93[EUR][1000 genomes]
rs9504165	0.91[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];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: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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4568000-4575800	Weak transcription	Osteobl	bone
3	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:4572600-4581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:4574000-4578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:4574200-4574600	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:4574200-4575000	Enhancers	Fetal Heart	heart
8	chr6:4574200-4575000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:4574200-4575000	Enhancers	Fetal Stomach	stomach

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