Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54780172..54782257-chr13:54783482..54785302,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1763779	0.83[ASN][1000 genomes]
rs2260462	0.89[EUR][1000 genomes]
rs2576113	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2576118	0.89[EUR][1000 genomes]
rs2576132	0.89[EUR][1000 genomes]
rs2576143	0.89[EUR][1000 genomes]
rs2576144	0.89[EUR][1000 genomes]
rs2782517	0.89[EUR][1000 genomes]
rs2782518	0.89[EUR][1000 genomes]
rs2784558	0.89[EUR][1000 genomes]
rs484366	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs510147	0.83[ASN][1000 genomes]
rs515604	0.89[EUR][1000 genomes]
rs518647	0.89[EUR][1000 genomes]
rs520026	0.93[EUR][1000 genomes]
rs538663	0.89[EUR][1000 genomes]
rs574751	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs632059	0.89[EUR][1000 genomes]
rs636911	0.93[EUR][1000 genomes]
rs657383	0.83[ASN][1000 genomes]
rs664745	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs681748	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs688466	0.93[EUR][1000 genomes]
rs795635	0.89[EUR][1000 genomes]
rs795642	0.89[EUR][1000 genomes]
rs795643	0.89[EUR][1000 genomes]
rs795652	0.89[EUR][1000 genomes]
rs795653	0.93[EUR][1000 genomes]
rs795655	0.89[EUR][1000 genomes]
rs795656	0.89[EUR][1000 genomes]
rs797060	0.89[EUR][1000 genomes]
rs7993452	0.89[EUR][1000 genomes]
rs812128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1051063	chr13:54777487-54997866	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv541778	chr13:54777487-54997866	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54770600-54781000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:54775200-54781000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:54775600-54784600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:54779400-54782000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:54779600-54781800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:54780200-54782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:54780800-54781600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:54780800-54782400	Enhancers	HUES6 Cell Line	embryonic stem cell

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