Variant report

Variant	rs72823283
Chromosome Location	chr2:49087151-49087152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:49080769..49083086-chr2:49086686..49089047,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10495961	0.90[ASN][1000 genomes]
rs12613652	0.89[AFR][1000 genomes]
rs12991843	1.00[ASN][1000 genomes]
rs13001105	0.91[AFR][1000 genomes]
rs13009992	0.90[ASN][1000 genomes]
rs13014494	0.95[ASN][1000 genomes]
rs13015025	0.95[ASN][1000 genomes]
rs13025362	0.90[ASN][1000 genomes]
rs13026157	0.90[ASN][1000 genomes]
rs17483876	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17556035	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075428	0.89[AFR][1000 genomes]
rs34339121	0.90[ASN][1000 genomes]
rs34375934	0.90[ASN][1000 genomes]
rs34428472	1.00[ASN][1000 genomes]
rs36080348	0.91[AFR][1000 genomes]
rs4331561	0.91[AFR][1000 genomes]
rs4374422	0.90[ASN][1000 genomes]
rs4432506	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4525742	0.95[ASN][1000 genomes]
rs4533511	0.90[ASN][1000 genomes]
rs4558635	0.95[ASN][1000 genomes]
rs55663001	0.90[ASN][1000 genomes]
rs55712456	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930451	0.90[ASN][1000 genomes]
rs55971673	0.90[ASN][1000 genomes]
rs56218371	0.84[AFR][1000 genomes]
rs56963017	0.90[ASN][1000 genomes]
rs57463767	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58176203	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58718281	0.90[ASN][1000 genomes]
rs59230684	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59263252	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324887	0.85[ASN][1000 genomes]
rs60732263	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61020573	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66481918	0.87[AFR][1000 genomes]
rs6706022	0.90[ASN][1000 genomes]
rs67138907	0.90[ASN][1000 genomes]
rs6721247	0.90[ASN][1000 genomes]
rs6734547	0.90[ASN][1000 genomes]
rs72811832	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72811860	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72811867	0.90[ASN][1000 genomes]
rs72811870	0.90[ASN][1000 genomes]
rs72811872	0.95[ASN][1000 genomes]
rs72811873	0.95[ASN][1000 genomes]
rs72811885	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811892	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423715	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567401	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591357	1.00[ASN][1000 genomes]
rs7594280	1.00[ASN][1000 genomes]
rs7594367	1.00[ASN][1000 genomes]
rs7597830	0.86[EUR][1000 genomes];1.00[ASN][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874005	chr2:49086399-49142199	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 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	chr2:49086200-49087600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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