Variant report

Variant	rs7666974
Chromosome Location	chr4:20579372-20579373
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10031950	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11936468	0.93[MEX][hapmap]
rs2446087	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs532992	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576127	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs603679	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs609535	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621806	0.89[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs636798	0.85[CEU][hapmap];0.93[MEX][hapmap]
rs649424	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs652756	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6819634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9291411	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9992591	0.81[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9992598	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]

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	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7666974	PACRGL	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
3	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
4	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:20567000-20581800	Weak transcription	NHEK	skin
9	chr4:20567000-20604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:20567200-20605200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:20571200-20593800	Weak transcription	Osteobl	bone
13	chr4:20572800-20582200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20574800-20592200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:20575200-20590800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:20576200-20579800	Enhancers	Fetal Lung	lung
17	chr4:20577400-20582200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:20577400-20597200	Weak transcription	Fetal Stomach	stomach
19	chr4:20577800-20581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:20577800-20582200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:20578000-20617400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:20578200-20616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:20578400-20579400	Weak transcription	Fetal Brain Female	brain
24	chr4:20578400-20610000	Weak transcription	Fetal Brain Male	brain
25	chr4:20578600-20594200	Weak transcription	NHLF	lung
26	chr4:20578800-20579800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20579000-20593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:20579200-20581200	Strong transcription	NHDF-Ad	bronchial

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