Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188917990..188920896-chr2:189154942..189156576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10178035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186464	0.85[AFR][1000 genomes]
rs13382365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395332	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396168	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399384	0.82[AFR][1000 genomes]
rs13399474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410181	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415844	1.00[AFR][1000 genomes]
rs13419775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28796667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158272	0.85[AFR][1000 genomes]
rs6721351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747109	0.85[AFR][1000 genomes]
rs7579505	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592786	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875601	chr2:188871436-188934777	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188905400-188923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:188911400-188922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:188915200-188918600	Weak transcription	Fetal Kidney	kidney
4	chr2:188916200-188922000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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