Variant report

Variant	rs8086766
Chromosome Location	chr18:11785174-11785175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11783235..11786004-chr18:11789445..11791383,2	K562	blood:
2	chr18:11773035..11775049-chr18:11783906..11786264,2	MCF-7	breast:
3	chr18:11781104..11782741-chr18:11784482..11786783,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10468681	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs11080534	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs12326439	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12327266	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12965108	0.85[CHD][hapmap]
rs12965256	0.85[CHD][hapmap]
rs1364632	0.85[CHD][hapmap]
rs1477481	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs1477483	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1786568	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.80[TSI][hapmap];0.85[ASN][1000 genomes]
rs1941224	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2161960	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2161961	0.82[CHB][hapmap]
rs28651978	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4797579	0.96[ASN][1000 genomes]
rs57536188	0.91[ASN][1000 genomes]
rs59700035	0.86[ASN][1000 genomes]
rs60736251	0.84[ASN][1000 genomes]
rs7226993	0.86[ASN][1000 genomes]
rs8084246	0.95[ASN][1000 genomes]
rs8084992	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8094039	0.95[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs8098539	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303746	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303748	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs9303749	0.85[CHD][hapmap]
rs9675368	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9676126	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9948889	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9962277	0.86[CHB][hapmap];0.90[CHD][hapmap]

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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8086766	PPP4R1	cis	cerebellum	SCAN
rs8086766	TWSG1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
2	chr18:11767600-11785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:11767600-11789000	Weak transcription	Esophagus	oesophagus
4	chr18:11780200-11785400	Weak transcription	Ovary	ovary
5	chr18:11783000-11785400	Weak transcription	Brain Germinal Matrix	brain
6	chr18:11783000-11785600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:11783400-11785800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
9	chr18:11783800-11785400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:11783800-11785400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:11783800-11785600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:11783800-11785800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:11783800-11786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:11783800-11786400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:11783800-11786400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:11784000-11785600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:11784000-11785600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:11784000-11786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:11784200-11785600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:11784200-11786000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:11784400-11785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:11784400-11785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:11784400-11785600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:11784600-11785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:11784800-11785200	Weak transcription	Fetal Brain Male	brain
26	chr18:11785000-11785600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:11785000-11785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:11785000-11786000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:11785000-11786200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:11785000-11786400	Enhancers	H9 Cell Line	embryonic stem cell

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