Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:60969936..60971835-chr7:70814518..70816806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149679	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11972878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11973680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527289	0.83[ASW][hapmap]
rs2527290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527292	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527293	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527295	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527296	1.00[YRI][hapmap]
rs2527311	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2527315	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707427	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707434	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73360130	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70814400-70816200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:70814600-70817600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:70814600-70818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70814800-70821800	Weak transcription	Pancreas	Pancrea
5	chr7:70814800-70828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:70814800-70829400	Weak transcription	Ovary	ovary
7	chr7:70815000-70826000	Weak transcription	Fetal Heart	heart
8	chr7:70815400-70816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:70815600-70819400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70816000-70816200	Enhancers	Fetal Muscle Leg	muscle

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