Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231452384..231454652-chr2:231455959..231457603,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10186690	0.81[ASN][1000 genomes]
rs10210144	0.81[ASN][1000 genomes]
rs10933346	0.85[ASN][1000 genomes]
rs10933347	0.86[ASN][1000 genomes]
rs11897882	0.86[ASN][1000 genomes]
rs11902565	0.84[ASN][1000 genomes]
rs13004600	0.86[ASN][1000 genomes]
rs13004787	0.86[ASN][1000 genomes]
rs13005078	0.86[ASN][1000 genomes]
rs13005545	0.85[ASN][1000 genomes]
rs13005614	0.85[ASN][1000 genomes]
rs13031749	0.86[ASN][1000 genomes]
rs13394762	0.86[ASN][1000 genomes]
rs13431400	0.81[ASN][1000 genomes]
rs34252874	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34920030	0.85[ASN][1000 genomes]
rs36110793	0.85[ASN][1000 genomes]
rs59723009	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6436950	0.86[ASN][1000 genomes]
rs6734189	0.86[ASN][1000 genomes]
rs6742549	0.98[ASN][1000 genomes]
rs6747374	0.86[ASN][1000 genomes]
rs6755247	0.86[ASN][1000 genomes]
rs73106842	0.85[ASN][1000 genomes]
rs73992464	0.85[ASN][1000 genomes]
rs7572719	0.86[ASN][1000 genomes]
rs7592551	0.94[AMR][1000 genomes];0.98[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13391467	COL4A4	cis	parietal	SCAN
rs13391467	GPR55	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231443400-231454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:231443400-231454600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:231448200-231456000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:231448400-231456600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:231448600-231454200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:231451400-231456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:231451400-231456400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:231452000-231454600	Active TSS	GM12878-XiMat	blood
9	chr2:231453600-231458000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:231453600-231461400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:231454000-231454400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:231454000-231454600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:231454000-231455000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:231454000-231457200	Enhancers	Primary B cells from cord blood	blood

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