Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:127285684..127286286-chr2:127392233..127393052,2	MCF-7	breast:
2	chr2:127285499..127286303-chr2:127534715..127535373,2	MCF-7	breast:
3	chr2:127285458..127286264-chr2:127534359..127535597,4	MCF-7	breast:
4	chr2:127285363..127286223-chr2:127729309..127730212,5	MCF-7	breast:
5	chr2:127285443..127286358-chr2:127534762..127535640,3	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10179912	1.00[JPT][hapmap]
rs10182007	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10194561	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10203788	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13382980	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13386710	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13413216	0.87[EUR][1000 genomes]
rs13415629	0.93[EUR][1000 genomes]
rs13419397	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13425595	0.93[EUR][1000 genomes]
rs1440050	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56896312	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6431080	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6431081	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6727953	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590145	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591893	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598155	0.83[ASN][1000 genomes]
rs7599320	0.92[EUR][1000 genomes]
rs7599552	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7606965	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs958916	0.94[ASN][1000 genomes]
rs961447	0.82[AFR][1000 genomes];0.94[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	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127286000-127288400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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