Variant report

Variant	rs60840750
Chromosome Location	chr21:16489234-16489235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16479952..16481503-chr21:16487749..16489759,2	MCF-7	breast:
2	chr21:16437247..16438888-chr21:16488928..16490925,2	MCF-7	breast:
3	chr21:16486048..16487912-chr21:16487981..16489890,2	MCF-7	breast:
4	chr21:16486684..16489820-chr21:16491291..16494292,3	MCF-7	breast:
5	chr21:16488938..16491130-chr21:16498668..16501646,2	K562	blood:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10482865	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107603	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17241137	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403879	1.00[EUR][1000 genomes]
rs2823072	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823073	1.00[EUR][1000 genomes]
rs2823078	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823090	1.00[EUR][1000 genomes]
rs41417546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56774948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57145147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58600183	0.86[EUR][1000 genomes]
rs59067564	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59121161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59808093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60733877	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61195764	1.00[EUR][1000 genomes]
rs61284713	1.00[EUR][1000 genomes]
rs7275982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7283880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340856	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73891984	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8127201	0.81[EUR][1000 genomes]
rs9789844	1.00[EUR][1000 genomes];0.96[ASN][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	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16482200-16491000	Weak transcription	Fetal Brain Male	brain

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