Variant report

Variant	rs73690890
Chromosome Location	chr8:66547505-66547506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:66547399-66547746	A549	lung:	n/a	n/a
2	MYC	chr8:66547446-66547742	NB4	blood:	n/a	n/a
3	CEBPB	chr8:66547376-66547702	K562	blood:	n/a	n/a
4	MYBL2	chr8:66547420-66547907	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:66547427-66547869	HepG2	liver:	n/a	n/a
6	MAX	chr8:66547380-66547681	NB4	blood:	n/a	n/a
7	CEBPB	chr8:66547442-66547681	K562	blood:	n/a	n/a
8	CEBPB	chr8:66547225-66547686	K562	blood:	n/a	n/a
9	CEBPB	chr8:66547462-66547648	HepG2	liver:	n/a	n/a
10	POLR2A	chr8:66547298-66547860	HepG2	liver:	n/a	n/a
11	HDAC2	chr8:66547394-66547879	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:66547439-66547773	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66546894..66548678-chr8:66628274..66630820,2	MCF-7	breast:
2	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:

No data

Variant related genes	Relation type
ARMC1	TF binding region
ENSG00000066855	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58098669	1.00[AFR][1000 genomes]
rs61063663	1.00[AFR][1000 genomes]
rs61079148	1.00[AFR][1000 genomes]
rs73690886	1.00[AFR][1000 genomes]
rs73690893	1.00[AFR][1000 genomes]
rs73690898	1.00[AFR][1000 genomes]
rs73690899	1.00[AFR][1000 genomes]
rs73690900	1.00[AFR][1000 genomes]
rs73690901	1.00[AFR][1000 genomes]
rs73693403	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66545000-66547600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:66545000-66547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:66545200-66547600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:66545200-66547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:66545200-66547600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:66545400-66547600	Active TSS	K562	blood
7	chr8:66545600-66547600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:66545600-66547600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:66545600-66547600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:66545600-66547600	Active TSS	HSMM	muscle
11	chr8:66545600-66547800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:66545600-66549400	Active TSS	A549	lung
13	chr8:66545800-66547600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:66545800-66547600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:66545800-66547600	Active TSS	Brain Germinal Matrix	brain
16	chr8:66545800-66547800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:66546000-66547600	Active TSS	Liver	Liver
18	chr8:66546000-66547600	Active TSS	Brain Anterior Caudate	brain
19	chr8:66546000-66547800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:66546400-66556000	Weak transcription	Small Intestine	intestine
21	chr8:66546600-66547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:66546600-66547600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:66546800-66547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:66547000-66547600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:66547000-66547600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:66547000-66547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:66547000-66547600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:66547000-66547600	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:66547000-66547600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:66547000-66547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:66547000-66547600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:66547000-66547600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:66547000-66547600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr8:66547000-66547600	Weak transcription	Pancreas	Pancrea
35	chr8:66547000-66547600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:66547000-66548000	Active TSS	HepG2	liver
37	chr8:66547000-66555800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:66547200-66547600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:66547200-66547600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:66547200-66547600	Enhancers	Primary B cells from cord blood	blood
41	chr8:66547200-66547600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:66547200-66547600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:66547200-66547600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:66547200-66547600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:66547200-66547600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr8:66547200-66547600	Enhancers	Stomach Mucosa	stomach
47	chr8:66547200-66547600	Flanking Active TSS	GM12878-XiMat	blood
48	chr8:66547200-66547600	Flanking Active TSS	Hela-S3	cervix
49	chr8:66547200-66547600	Enhancers	HSMMtube	muscle
50	chr8:66547200-66547600	Flanking Active TSS	NHDF-Ad	bronchial

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