Variant report

Variant	rs72673336
Chromosome Location	chr8:104222280-104222281
allele	C/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	POLR2A	chr8:104221737-104222775	U87	brain:	n/a	n/a
2	ZNF217	chr8:104222139-104222935	MCF-7	breast:	n/a	n/a
3	FOSL1	chr8:104221589-104222309	HCT-116	colon:	n/a	n/a
4	POLR2A	chr8:104221616-104222886	U87	brain:	n/a	n/a
5	MYC	chr8:104222147-104222340	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:104221971-104223065	MCF10A-Er-Src	breast:	n/a	n/a
7	HA-E2F1	chr8:104222185-104222933	MCF-7	breast:	n/a	n/a
8	HDAC2	chr8:104222062-104223006	MCF-7	breast:	n/a	chr8:104222810-104222824
9	POLR2A	chr8:104221737-104222791	U87	brain:	n/a	n/a
10	POLR2A	chr8:104221580-104222886	U87	brain:	n/a	n/a
11	SIN3AK20	chr8:104221928-104223049	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104221445..104224314-chr8:104309369..104311111,2	MCF-7	breast:
2	chr8:104220760..104222737-chr8:104228002..104230540,2	MCF-7	breast:
3	chr8:104221105..104222852-chr8:104245322..104248174,2	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1113413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11554072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55713894	0.85[EUR][1000 genomes]
rs56006114	0.93[EUR][1000 genomes]
rs56047420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60613695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7017690	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673325	0.91[EUR][1000 genomes]
rs72673327	0.96[EUR][1000 genomes]
rs72673331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673333	0.87[EUR][1000 genomes]
rs72673337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72673342	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673345	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104209400-104225400	Weak transcription	Brain Substantia Nigra	brain
2	chr8:104215000-104222800	Enhancers	NHDF-Ad	bronchial
3	chr8:104215000-104224200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:104215600-104225000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:104216800-104223200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:104217000-104223800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:104217200-104223600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:104217800-104222800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104218600-104222600	Enhancers	NHLF	lung
10	chr8:104218800-104222600	Enhancers	Osteobl	bone
11	chr8:104218800-104222800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:104218800-104222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:104218800-104222800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:104219600-104222600	Enhancers	Hela-S3	cervix
15	chr8:104219600-104222800	Enhancers	NH-A	brain
16	chr8:104219600-104223400	Enhancers	HMEC	breast
17	chr8:104219800-104222800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:104219800-104222800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:104219800-104223200	Enhancers	NHEK	skin
20	chr8:104219800-104223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:104220200-104222800	Enhancers	Esophagus	oesophagus
22	chr8:104220400-104229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:104220600-104223200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:104220600-104224200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:104220600-104225200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:104220600-104225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:104220800-104225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:104220800-104225200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:104220800-104225400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:104221200-104222600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:104221400-104223800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:104221600-104222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:104221600-104223000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:104222200-104222400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:104222200-104222400	Enhancers	Brain Hippocampus Middle	brain
36	chr8:104222200-104222400	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:104222200-104222400	Enhancers	Gastric	stomach
38	chr8:104222200-104222400	Enhancers	Right Atrium	heart
39	chr8:104222200-104222800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:104222200-104224000	Strong transcription	Primary hematopoietic stem cells	blood

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