Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30502030..30504176-chr13:30507351..30509428,2	MCF-7	breast:
2	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

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

rs_ID	r²[population]
rs1093631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1325368	0.92[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs17631642	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17688104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2388239	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs3843677	0.92[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs3843678	0.92[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs4318068	0.87[ASN][1000 genomes]
rs4769779	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs4769780	0.87[ASN][1000 genomes]
rs4769781	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs585668	0.87[ASN][1000 genomes]
rs73157197	0.83[ASN][1000 genomes]
rs7319246	0.95[ASN][1000 genomes]
rs7320271	0.92[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs7320355	0.92[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs7320728	0.95[ASN][1000 genomes]
rs7322038	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs74042894	1.00[ASN][1000 genomes]
rs7994222	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs843883	0.87[ASN][1000 genomes]
rs927731	0.92[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs927732	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927733	0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9508592	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508594	0.86[CHB][hapmap];0.88[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30498400-30508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:30500000-30503200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30500000-30503200	Weak transcription	NHEK	skin
7	chr13:30500000-30503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:30500200-30503200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:30500400-30503400	Weak transcription	Placenta	Placenta
10	chr13:30500600-30503200	Weak transcription	HMEC	breast
11	chr13:30500800-30503200	Weak transcription	Esophagus	oesophagus
12	chr13:30501000-30503200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:30501000-30503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:30501000-30503600	Weak transcription	Pancreas	Pancrea

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