Variant report

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112052428-112052628	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112045125..112048422-chr7:112049738..112053855,5	K562	blood:
2	chr7:112050573..112053136-chr7:112089164..112091552,2	MCF-7	breast:
3	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
4	chr7:112050774..112053695-chr7:112073947..112076333,2	K562	blood:
5	chr7:112051238..112053639-chr7:112090198..112091815,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226851	TF binding region
ENSG00000006652	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10046519	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10252741	0.80[ASN][1000 genomes]
rs10272976	0.83[ASN][1000 genomes]
rs11768719	0.83[ASN][1000 genomes]
rs12666911	0.84[ASN][1000 genomes]
rs12673259	0.84[ASN][1000 genomes]
rs2188534	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249151	0.85[ASN][1000 genomes]
rs2249157	0.85[ASN][1000 genomes]
rs2520470	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520471	0.84[ASN][1000 genomes]
rs2520473	0.84[ASN][1000 genomes]
rs2520475	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520476	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520482	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2708592	0.80[ASN][1000 genomes]
rs2708594	0.80[ASN][1000 genomes]
rs2708597	0.84[ASN][1000 genomes]
rs2708598	0.84[ASN][1000 genomes]
rs28781733	0.84[ASN][1000 genomes]
rs28805003	0.84[ASN][1000 genomes]
rs28817601	0.84[ASN][1000 genomes]
rs34171150	0.80[ASN][1000 genomes]
rs3823514	0.83[ASN][1000 genomes]
rs4730529	0.85[ASN][1000 genomes]
rs66788052	0.84[ASN][1000 genomes]
rs735150	0.85[ASN][1000 genomes]
rs7781261	0.87[ASN][1000 genomes]
rs7781393	0.87[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112050600-112052800	Enhancers	HepG2	liver
3	chr7:112051000-112053000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:112051200-112054800	Weak transcription	Fetal Lung	lung
5	chr7:112051400-112053400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:112051400-112055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:112051600-112053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:112051600-112055200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:112051600-112055200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
11	chr7:112051800-112059800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:112052000-112055000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:112052000-112056200	Weak transcription	HUVEC	blood vessel

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