Variant report

Variant	rs420580
Chromosome Location	chr6:4553561-4553562
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	chr6:4510973..4512545-chr6:4553397..4556208,2	K562	blood:
2	chr6:4552526..4554693-chr6:4558953..4561046,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11756102	1.00[CEU][hapmap]
rs11962071	0.81[ASN][1000 genomes]
rs11964426	1.00[CEU][hapmap]
rs17138481	0.85[ASN][1000 genomes]
rs17138527	0.84[EUR][1000 genomes]
rs17138531	0.81[ASN][1000 genomes]
rs17138543	0.82[EUR][1000 genomes]
rs2016920	0.85[ASN][1000 genomes]
rs2235726	0.84[EUR][1000 genomes]
rs2235727	0.84[EUR][1000 genomes]
rs382186	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410662	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4959306	0.84[EUR][1000 genomes]
rs58440707	0.82[ASN][1000 genomes]
rs58901337	0.81[ASN][1000 genomes]
rs59668969	0.85[ASN][1000 genomes]
rs61626939	0.86[ASN][1000 genomes]
rs6911463	1.00[CEU][hapmap]
rs73359389	0.85[ASN][1000 genomes]
rs73717400	0.86[ASN][1000 genomes]
rs73719818	0.82[ASN][1000 genomes]
rs73719819	0.82[ASN][1000 genomes]
rs7747007	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751465	0.83[ASN][1000 genomes]
rs7755263	0.85[ASN][1000 genomes]
rs7764506	0.85[ASN][1000 genomes]
rs7768719	0.85[ASN][1000 genomes]
rs84996	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9502202	0.84[EUR][1000 genomes]
rs9502208	0.86[TSI][hapmap]
rs9504152	0.91[EUR][1000 genomes]
rs9504154	0.86[EUR][1000 genomes]
rs9504163	0.87[ASN][1000 genomes]
rs9504165	1.00[CEU][hapmap]

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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4546800-4559600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4550800-4553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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