Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:194030362..194032550-chr1:194034091..194036103,2	MCF-7	breast:
2	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494693	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12404012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404689	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1442428	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1899429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28473356	1.00[EUR][1000 genomes]
rs34125568	0.96[ASN][1000 genomes]
rs34359572	0.96[ASN][1000 genomes]
rs35314445	0.95[AFR][1000 genomes]
rs58006978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58271974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680781	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72644117	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72644118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72644119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72644120	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72644121	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72644122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72644124	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7515665	0.81[AMR][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv467016	chr1:194022818-194037890	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv548665	chr1:194022818-194037890	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194026200-194031600	Weak transcription	Right Atrium	heart
2	chr1:194030600-194031600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:194030600-194037200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:194031000-194031400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:194031200-194032000	Enhancers	HUVEC	blood vessel

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