Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90343546..90347472-chr5:90675277..90677935,4	MCF-7	breast:
2	chr5:90337875..90340059-chr5:90342694..90345036,3	K562	blood:
3	chr5:90343505..90346725-chr5:90355686..90358630,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16869403	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16869404	0.90[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs16869414	0.90[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]
rs16869425	0.81[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]
rs1852731	0.81[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap]
rs1986718	0.81[CEU][hapmap]
rs2886924	0.90[CEU][hapmap]
rs2950849	0.81[CEU][hapmap];0.82[CHB][hapmap];0.88[MEX][hapmap]
rs2950851	0.81[CEU][hapmap]
rs2950852	0.88[MEX][hapmap]
rs2950854	0.81[CEU][hapmap]
rs2950855	0.81[CEU][hapmap]
rs2973445	0.81[CEU][hapmap]
rs2973447	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs2973448	0.89[CEU][hapmap]
rs2973449	0.81[CEU][hapmap]
rs2973450	0.81[CEU][hapmap]
rs2973453	0.81[CEU][hapmap]
rs2973454	0.81[CEU][hapmap]
rs2973456	0.81[CEU][hapmap]
rs3112484	0.81[CEU][hapmap]
rs3952745	0.81[CEU][hapmap]
rs66608099	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6874106	0.90[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap]
rs73187140	0.92[ASN][1000 genomes]
rs73187144	0.92[ASN][1000 genomes]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90324600-90350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:90335000-90344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:90335200-90344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90339400-90343800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:90341200-90376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:90341600-90344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:90343200-90346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:90343400-90343600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:90343400-90344400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:90343400-90345200	Enhancers	A549	lung

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