Variant report

Variant	rs3020108
Chromosome Location	chr8:117960386-117960387
allele	A/G
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	FOXP2	chr8:117959985-117960394	PFSK-1	brain:	n/a	n/a
2	CTCF	chr8:117960280-117960430	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117957934..117960768-chr8:117963389..117965373,2	K562	blood:

Variant related genes	Relation type
SLC30A8	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10429430	0.81[JPT][hapmap]
rs12542825	0.91[JPT][hapmap]
rs12675339	0.81[JPT][hapmap]
rs13269147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1596895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17745041	0.81[JPT][hapmap]
rs1995581	0.91[JPT][hapmap]
rs2047962	0.81[JPT][hapmap]
rs2047963	0.91[JPT][hapmap]
rs2921721	0.99[EUR][1000 genomes]
rs2921722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019879	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs3019886	0.91[JPT][hapmap]
rs3020107	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3020110	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs3020114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs3020115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3020116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs4242567	0.91[JPT][hapmap]
rs4242568	0.91[JPT][hapmap]
rs4269571	0.91[JPT][hapmap]
rs4510896	0.91[JPT][hapmap]
rs6469667	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6469668	0.91[JPT][hapmap]
rs6987643	0.81[JPT][hapmap]
rs7842705	0.91[JPT][hapmap]
rs921067	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117951200-117962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117957200-117961200	Enhancers	Colon Smooth Muscle	Colon
3	chr8:117957600-117960400	Enhancers	Fetal Muscle Leg	muscle
4	chr8:117959200-117962000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:117959800-117960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:117960000-117960400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:117960000-117960400	Enhancers	Pancreas	Pancrea
8	chr8:117960000-117960400	Bivalent Enhancer	HSMMtube	muscle
9	chr8:117960000-117960600	Enhancers	Psoas Muscle	Psoas
10	chr8:117960000-117960800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:117960000-117960800	Enhancers	Fetal Heart	heart
12	chr8:117960000-117961000	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:117960200-117960400	Enhancers	Ovary	ovary
14	chr8:117960200-117961000	Enhancers	Fetal Lung	lung

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