Variant report

Variant	rs8066131
Chromosome Location	chr17:66505019-66505020
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	FOXA1	chr17:66504998-66505907	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66503157..66506597-chr17:66507024..66509568,3	K562	blood:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1030098	1.00[CHB][hapmap]
rs11656906	1.00[CHB][hapmap]
rs12453629	1.00[CHB][hapmap]
rs2287301	1.00[CHB][hapmap]
rs2907373	0.80[CEU][hapmap];0.80[MEX][hapmap]
rs2952271	0.80[CEU][hapmap];0.85[MEX][hapmap]
rs2952275	0.80[CEU][hapmap];0.84[MEX][hapmap]
rs2952278	0.83[GIH][hapmap]
rs2952291	1.00[CHB][hapmap]
rs4265886	0.80[CEU][hapmap];0.85[MEX][hapmap]
rs4321253	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501512	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207491	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7222188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069982	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs8076465	0.80[CEU][hapmap];0.85[MEX][hapmap]
rs8080306	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs869657	1.00[CHB][hapmap]
rs9892343	0.93[EUR][1000 genomes]
rs9894682	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898700	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8066131	PRKAR1A	cis	multi-tissue	Pritchard
rs8066131	CD79B	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66502000-66507600	Weak transcription	Left Ventricle	heart
2	chr17:66503000-66505200	Enhancers	HepG2	liver
3	chr17:66503400-66506200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:66503600-66507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:66503600-66507400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr17:66503600-66507600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:66503800-66505400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:66504000-66507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:66504200-66505200	Weak transcription	HUVEC	blood vessel
10	chr17:66504200-66506000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:66504200-66507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:66504200-66507400	Weak transcription	NHLF	lung
13	chr17:66504200-66507400	Weak transcription	Osteobl	bone
14	chr17:66504200-66507600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:66504400-66505400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr17:66504400-66505600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:66504400-66505600	Weak transcription	HSMM	muscle
18	chr17:66504400-66506000	Weak transcription	Liver	Liver
19	chr17:66504400-66507000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:66504400-66507600	Weak transcription	HSMMtube	muscle
21	chr17:66504600-66505800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:66505000-66505200	Enhancers	Brain Angular Gyrus	brain
23	chr17:66505000-66506800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr17:66505000-66507400	Enhancers	Primary B cells from cord blood	blood
25	chr17:66505000-66507400	Enhancers	Adipose Nuclei	Adipose

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