Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:194071422..194072384-chr1:194264231..194265518,7	MCF-7	breast:
2	chr1:194070430..194072677-chr1:194322592..194324190,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10921491	0.84[EUR][1000 genomes]
rs12124021	0.82[EUR][1000 genomes]
rs1372643	0.83[EUR][1000 genomes]
rs2584257	0.84[EUR][1000 genomes]
rs2895663	0.81[EUR][1000 genomes]
rs480434	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509469	0.80[EUR][1000 genomes]
rs511374	0.86[EUR][1000 genomes]
rs524329	0.88[ASN][1000 genomes]
rs533405	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624023	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs627525	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs628563	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630779	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632432	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634899	0.86[EUR][1000 genomes]
rs637225	0.86[EUR][1000 genomes]
rs643114	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651794	0.86[EUR][1000 genomes]
rs665903	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs685287	0.80[EUR][1000 genomes]
rs7417488	0.84[EUR][1000 genomes]
rs9783003	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv872836	chr1:194032486-194130204	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194071600-194073800	Enhancers	Thymus	Thymus
2	chr1:194071600-194074200	Enhancers	Fetal Thymus	thymus
3	chr1:194071800-194072600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:194072000-194072200	Enhancers	Primary T cells fromperipheralblood	blood

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