Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
2	chr13:30487024..30489829-chr13:30495820..30498491,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11616970	1.00[ASN][1000 genomes]
rs11617644	0.99[ASN][1000 genomes]
rs11618111	1.00[ASN][1000 genomes]
rs11843877	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074015	1.00[ASN][1000 genomes]
rs17631508	0.89[ASN][1000 genomes]
rs2027459	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027460	1.00[ASN][1000 genomes]
rs2031491	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031492	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039948	0.98[ASN][1000 genomes]
rs2039951	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34444526	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144866	1.00[ASN][1000 genomes]
rs60031463	0.97[ASN][1000 genomes]
rs7994117	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912790	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912791	1.00[ASN][1000 genomes]
rs912792	1.00[ASN][1000 genomes]
rs927735	0.96[ASN][1000 genomes]
rs9314988	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508589	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
3	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:30483600-30489200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:30484800-30491200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:30484800-30491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:30484800-30492400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30485000-30494200	Weak transcription	A549	lung
9	chr13:30486400-30488000	Weak transcription	Adipose Nuclei	Adipose
10	chr13:30486400-30492400	Weak transcription	Esophagus	oesophagus
11	chr13:30486400-30492400	Weak transcription	Placenta	Placenta
12	chr13:30486400-30492400	Weak transcription	Gastric	stomach
13	chr13:30487600-30489200	Enhancers	Placenta Amnion	Placenta Amnion

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