Variant report

Variant	rs59697406
Chromosome Location	chr8:124297922-124297923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr8:124297892-124298610	HCT-116	colon:	n/a	chr8:124298548-124298560
2	MYC	chr8:124297882-124298157	K562	blood:	n/a	n/a
3	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
ENSG00000165156	Chromatin interaction
ENSG00000253336	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10102371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105355	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956124	1.00[ASN][1000 genomes]
rs11774610	1.00[ASN][1000 genomes]
rs16898165	0.93[AFR][1000 genomes]
rs16898247	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891717	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3857956	1.00[ASN][1000 genomes]
rs4489325	1.00[ASN][1000 genomes]
rs57815619	1.00[ASN][1000 genomes]
rs59355895	0.81[AFR][1000 genomes]
rs62520595	1.00[ASN][1000 genomes]
rs62520596	1.00[ASN][1000 genomes]
rs62520599	1.00[ASN][1000 genomes]
rs62520600	1.00[ASN][1000 genomes]
rs62520601	1.00[ASN][1000 genomes]
rs62521769	1.00[ASN][1000 genomes]
rs62521770	1.00[ASN][1000 genomes]
rs62521771	1.00[ASN][1000 genomes]
rs62521772	1.00[ASN][1000 genomes]
rs62521773	1.00[ASN][1000 genomes]
rs62521775	1.00[ASN][1000 genomes]
rs62521778	1.00[ASN][1000 genomes]
rs6989437	0.96[AFR][1000 genomes]
rs6996427	0.93[AFR][1000 genomes]
rs6998407	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000034	1.00[ASN][1000 genomes]
rs73337868	1.00[ASN][1000 genomes]
rs73337885	1.00[ASN][1000 genomes]
rs73337894	1.00[ASN][1000 genomes]
rs73341743	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703793	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703796	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703800	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835285	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844363	1.00[ASN][1000 genomes]
rs900628	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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:28 , 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	chr8:124289400-124298000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124295200-124300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:124295400-124301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:124296000-124298600	Enhancers	Fetal Brain Male	brain
8	chr8:124296800-124298200	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:124297000-124298200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:124297200-124298400	Enhancers	Fetal Lung	lung
11	chr8:124297200-124298600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:124297200-124298800	Enhancers	K562	blood
13	chr8:124297400-124298000	Enhancers	Brain Angular Gyrus	brain
14	chr8:124297400-124298600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:124297600-124298200	Enhancers	Brain Substantia Nigra	brain
16	chr8:124297600-124298400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:124297600-124298400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:124297600-124298400	Enhancers	Brain Anterior Caudate	brain
19	chr8:124297600-124298800	Enhancers	Brain Germinal Matrix	brain
20	chr8:124297600-124298800	Enhancers	Fetal Brain Female	brain
21	chr8:124297800-124298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:124297800-124298200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:124297800-124298200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:124297800-124298200	Enhancers	Psoas Muscle	Psoas
25	chr8:124297800-124298600	Enhancers	NHEK	skin
26	chr8:124297800-124298800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:124297800-124298800	Enhancers	HMEC	breast
28	chr8:124297800-124299200	Enhancers	Hela-S3	cervix

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