Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76115175..76117196-chr5:76160540..76162682,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10055746	0.91[ASN][1000 genomes]
rs10063816	0.82[EUR][1000 genomes]
rs10076411	0.91[ASN][1000 genomes]
rs10440683	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10440684	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462547	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10462548	0.85[EUR][1000 genomes]
rs12152714	0.90[ASN][1000 genomes]
rs12152998	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12653515	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160667	0.93[ASN][1000 genomes]
rs13168922	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320309	0.82[EUR][1000 genomes]
rs1343712	0.91[ASN][1000 genomes]
rs55863251	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6414971	0.82[EUR][1000 genomes]
rs6453259	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs6453260	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs6859961	0.91[ASN][1000 genomes]
rs6860303	0.91[ASN][1000 genomes]
rs6869909	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874234	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736104	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293697	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885484	1.00[CHB][hapmap];0.91[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9293698	CRHBP	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76153000-76174400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:76154800-76162800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:76156800-76162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:76157200-76162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:76158400-76165200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:76158600-76163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:76159000-76162000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:76159000-76169600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:76159200-76162400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:76159200-76163000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:76159200-76163600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:76159200-76163600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:76159200-76163600	Weak transcription	Stomach Mucosa	stomach

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