Variant report

Variant	rs59703567
Chromosome Location	chr8:124298096-124298097
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr8:124298086-124298369	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr8:124298077-124298394	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:124298021-124298357	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr8:124298059-124298452	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:124297924-124298370	HCT-116	colon:	n/a	n/a
6	FOS	chr8:124298052-124298341	MCF10A-Er-Src	breast:	n/a	n/a
7	KAP1	chr8:124298019-124298679	U2OS	brain:	n/a	n/a
8	MAFK	chr8:124298090-124298214	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:124298073-124298388	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr8:124298027-124298217	Hela-S3	cervix:	n/a	n/a
11	FOS	chr8:124298009-124298388	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:124297990-124298419	HCT-116	colon:	n/a	n/a
13	FOS	chr8:124298013-124298399	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL1	chr8:124297892-124298610	HCT-116	colon:	n/a	chr8:124298548-124298560
15	MYC	chr8:124297882-124298157	K562	blood:	n/a	n/a
16	STAT3	chr8:124298070-124298357	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr8:124298079-124298390	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr8:124298061-124298214	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr8:124297853-124298179	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124296457..124298594-chr8:124298686..124302804,3	K562	blood:
2	chr8:124285027..124288620-chr8:124297084..124299627,4	MCF-7	breast:
3	chr8:124294409..124296212-chr8:124296659..124298892,2	K562	blood:
4	chr8:124289210..124291105-chr8:124296512..124298994,2	MCF-7	breast:
5	chr8:124288963..124291193-chr8:124295554..124298601,3	K562	blood:
6	chr8:124284678..124290463-chr8:124295890..124302199,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253336	TF binding region
ENSG00000253336	Chromatin interaction
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16898214	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55877745	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57012943	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57790492	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57891828	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7838835	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124287800-124301200	Weak transcription	Esophagus	oesophagus
2	chr8:124288200-124298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124288200-124298400	Weak transcription	Right Atrium	heart
4	chr8:124295200-124300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:124295400-124301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:124296000-124298600	Enhancers	Fetal Brain Male	brain
7	chr8:124296800-124298200	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:124297000-124298200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:124297200-124298400	Enhancers	Fetal Lung	lung
10	chr8:124297200-124298600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:124297200-124298800	Enhancers	K562	blood
12	chr8:124297400-124298600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:124297600-124298200	Enhancers	Brain Substantia Nigra	brain
14	chr8:124297600-124298400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:124297600-124298400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:124297600-124298400	Enhancers	Brain Anterior Caudate	brain
17	chr8:124297600-124298800	Enhancers	Brain Germinal Matrix	brain
18	chr8:124297600-124298800	Enhancers	Fetal Brain Female	brain
19	chr8:124297800-124298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:124297800-124298200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:124297800-124298200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:124297800-124298200	Enhancers	Psoas Muscle	Psoas
23	chr8:124297800-124298600	Enhancers	NHEK	skin
24	chr8:124297800-124298800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:124297800-124298800	Enhancers	HMEC	breast
26	chr8:124297800-124299200	Enhancers	Hela-S3	cervix
27	chr8:124298000-124298400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:124298000-124298400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:124298000-124298400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:124298000-124298600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:124298000-124298800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:124298000-124298800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:124298000-124303400	Weak transcription	Brain Angular Gyrus	brain

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