Variant report

Variant	rs6469073
Chromosome Location	chr8:86988529-86988530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86374490..86376289-chr8:86988361..86990116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	Chromatin interaction
ENSG00000104267	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10504817	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897884	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897918	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16898049	0.91[AMR][1000 genomes]
rs56957601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6469070	0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7000427	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7005397	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825057	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
8	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1801404	chr8:86976804-87023306	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86983600-86988800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:86983800-86991200	Enhancers	Brain Hippocampus Middle	brain
3	chr8:86984200-87000000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:86984800-86989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:86985200-86989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:86985400-86988600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:86985800-86989200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:86986000-86988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:86986200-86989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:86986600-86989400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:86986800-86988600	Enhancers	Fetal Lung	lung
12	chr8:86986800-86989000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:86986800-86989400	Enhancers	Brain Substantia Nigra	brain
14	chr8:86987000-86990600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:86987400-86988800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:86987400-86988800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:86987400-86989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:86987400-86989200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:86987400-86990800	Weak transcription	NHEK	skin
20	chr8:86987400-86991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:86987600-86992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:86987800-86991600	Weak transcription	Hela-S3	cervix
23	chr8:86988200-86990800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:86988200-86990800	Weak transcription	HMEC	breast
25	chr8:86988400-86988600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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