Variant report

Variant	rs6048129
Chromosome Location	chr20:22476237-22476238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22475539..22478266-chr20:22485211..22486934,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11087380	0.97[EUR][1000 genomes]
rs11906432	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11907482	0.97[EUR][1000 genomes]
rs12624718	0.93[EUR][1000 genomes]
rs12624722	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12624953	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1337922	0.86[EUR][1000 genomes]
rs1415813	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1415814	1.00[EUR][1000 genomes]
rs16984013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753624	0.86[EUR][1000 genomes]
rs17753672	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17753702	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17815823	0.94[ASN][1000 genomes]
rs2404164	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4533554	0.87[AMR][1000 genomes]
rs56838056	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6048124	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048132	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60555721	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61425731	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61665161	0.86[EUR][1000 genomes]
rs66530603	1.00[EUR][1000 genomes]
rs7269344	0.86[EUR][1000 genomes]
rs73298912	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73298913	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73298915	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73298930	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73900501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8116145	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8116146	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8117208	0.88[EUR][1000 genomes]
rs8121889	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8121931	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8121938	0.86[EUR][1000 genomes]
rs8122043	0.82[EUR][1000 genomes]
rs8122127	0.86[EUR][1000 genomes]
rs8123670	0.86[EUR][1000 genomes]
rs945980	0.82[AMR][1000 genomes]
rs950519	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066578	chr20:22472671-22513844	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	6 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	chr20:22472200-22480000	Weak transcription	Fetal Intestine Large	intestine
2	chr20:22473600-22483400	Weak transcription	Pancreas	Pancrea
3	chr20:22475000-22479800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:22475200-22477600	Enhancers	HepG2	liver
5	chr20:22475400-22476400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:22475400-22476400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:22475400-22476800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr20:22475600-22476400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:22476200-22476600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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