Variant report

Variant	rs6986986
Chromosome Location	chr8:86084819-86084820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:86084032-86084882	Hela-S3	cervix:	n/a	chr8:86084697-86084708 chr8:86084696-86084709 chr8:86084666-86084678 chr8:86084715-86084726
2	CEBPB	chr8:86084526-86084846	HepG2	liver:	n/a	chr8:86084697-86084708 chr8:86084696-86084709 chr8:86084666-86084678 chr8:86084715-86084726
3	STAT3	chr8:86084615-86084819	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:86084556-86084828	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr8:86084539-86084868	K562	blood:	n/a	chr8:86084697-86084708 chr8:86084696-86084709 chr8:86084666-86084678 chr8:86084715-86084726
6	FOS	chr8:86084512-86084851	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr8:86084517-86084857	A549	lung:	n/a	chr8:86084697-86084708 chr8:86084696-86084709 chr8:86084666-86084678 chr8:86084715-86084726
8	MYC	chr8:86084444-86084829	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr8:86084608-86084858	H1-hESC	embryonic stem cell:	n/a	chr8:86084697-86084708 chr8:86084696-86084709 chr8:86084666-86084678 chr8:86084715-86084726
10	STAT3	chr8:86084615-86084821	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:85971850..85974054-chr8:86083102..86085878,2	MCF-7	breast:
2	chr8:86081116..86086667-chr8:86087249..86091759,20	MCF-7	breast:

Variant related genes	Relation type
E2F5	TF binding region
ENSG00000133740	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000254208	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4150874	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150879	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59377733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6985225	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7822702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826319	0.86[AFR][1000 genomes];1.00[AMR][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86083600-86088600	Enhancers	Primary B cells from cord blood	blood
2	chr8:86084000-86085200	Weak transcription	Fetal Thymus	thymus
3	chr8:86084000-86085600	Enhancers	HepG2	liver
4	chr8:86084000-86088800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:86084200-86085000	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:86084400-86085400	Enhancers	Liver	Liver
7	chr8:86084600-86085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:86084600-86086800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:86084600-86087400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:86084600-86088600	Weak transcription	Thymus	Thymus
11	chr8:86084600-86088600	Weak transcription	K562	blood
12	chr8:86084600-86088800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:86084600-86088800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:86084800-86087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:86084800-86087400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:86084800-86088600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:86084800-86088600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:86084800-86088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:86084800-86088800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:86084800-86088800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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