Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45456437..45458948-chr18:45475557..45477479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

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

rs_ID	r²[population]
rs16958497	1.00[YRI][hapmap]
rs16958498	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs16958499	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs16958520	0.82[YRI][hapmap]
rs16958543	0.88[AFR][1000 genomes]
rs16958545	0.88[AFR][1000 genomes]
rs16958551	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs16958554	0.94[AFR][1000 genomes]
rs16958557	0.94[AFR][1000 genomes]
rs16958568	1.00[ASW][hapmap];0.82[AFR][1000 genomes]
rs16958574	0.94[AFR][1000 genomes]
rs16958577	0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs16958585	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs16958599	0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs16958615	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs16958635	1.00[ASW][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs17815568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787182	1.00[ASN][1000 genomes]
rs1970666	0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs7232994	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[AFR][1000 genomes]
rs72914353	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs948599	0.97[AFR][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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45472400-45479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:45475200-45476800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:45475400-45476000	Enhancers	Brain Germinal Matrix	brain
4	chr18:45475600-45476000	Enhancers	Brain Substantia Nigra	brain
5	chr18:45475600-45476600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:45475600-45479800	Weak transcription	Aorta	Aorta
7	chr18:45475600-45480000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:45475800-45476200	Enhancers	Brain Hippocampus Middle	brain
9	chr18:45475800-45476600	Enhancers	Adipose Nuclei	Adipose

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