Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:54483454..54486448-chr6:54709404..54710933,2	MCF-7	breast:
2	chr6:54709139..54711220-chr6:54750997..54752618,2	MCF-7	breast:
3	chr20:52738859..52741782-chr6:54708785..54710307,2	MCF-7	breast:
4	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:
5	chr6:54709202..54711186-chr6:54779955..54782595,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12175211	1.00[CHB][hapmap]
rs12664791	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1507108	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs16885880	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs17682340	1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17749547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174144	1.00[CEU][hapmap]
rs62412606	0.96[EUR][1000 genomes]
rs62412628	0.96[EUR][1000 genomes]
rs62412629	0.96[EUR][1000 genomes]
rs62412630	0.96[EUR][1000 genomes]
rs62412631	0.96[EUR][1000 genomes]
rs62412632	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62412635	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62412645	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62412646	0.92[EUR][1000 genomes]
rs62412648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62412649	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7757553	1.00[CEU][hapmap]
rs9357819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357821	1.00[CHB][hapmap]
rs9370339	1.00[CHB][hapmap]
rs9370340	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs9382377	1.00[MEX][hapmap]
rs9382401	1.00[CHB][hapmap]
rs9396000	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv823700	chr6:54709648-54710116	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17682328	SERPINB1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54707200-54710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:54707400-54710200	Weak transcription	NHEK	skin
3	chr6:54707400-54710800	Weak transcription	Placenta	Placenta
4	chr6:54709000-54710400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:54709000-54713400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:54709000-54714200	Active TSS	Duodenum Mucosa	Duodenum
7	chr6:54709200-54710200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:54709200-54710200	Enhancers	HMEC	breast
9	chr6:54709400-54710800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:54709800-54710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:54709800-54713400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:54710000-54710400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
13	chr6:54710000-54710600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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