Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:120670196..120670769-chr11:120683273..120684178,2	MCF-7	breast:
2	chr11:120682870..120683623-chr11:120733999..120734523,2	MCF-7	breast:
3	chr11:120682539..120685026-chr11:120686697..120688763,2	K562	blood:
4	chr11:120683109..120686039-chr11:120687906..120690836,2	K562	blood:
5	chr11:120665889..120668444-chr11:120682630..120684138,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12291852	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1320649	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1939670	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1939671	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939672	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155260	0.87[EUR][1000 genomes]
rs2186699	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3016414	0.92[EUR][1000 genomes]
rs3020100	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020104	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020105	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs3020184	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133525	0.92[EUR][1000 genomes]
rs4075786	0.86[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076169	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003743	1.00[ASN][1000 genomes]
rs73003745	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003764	1.00[ASN][1000 genomes]
rs73003773	1.00[ASN][1000 genomes]
rs948024	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948025	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948034	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3369834	chr11:120683144-120683639	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs948026	L1TD1	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120671400-120687400	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120673600-120687800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:120673600-120687800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
5	chr11:120678800-120683600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:120678800-120688000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:120679800-120685600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120680000-120685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120680200-120695000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:120681200-120687000	Weak transcription	HepG2	liver
11	chr11:120681200-120687800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:120682000-120683600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:120683200-120683600	Enhancers	Liver	Liver
14	chr11:120683400-120683600	Enhancers	Placenta	Placenta
15	chr11:120683400-120684000	Enhancers	Ovary	ovary

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