Variant report

Variant	rs8045952
Chromosome Location	chr16:80192458-80192459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80192243..80194874-chr16:80195006..80196589,2	K562	blood:
2	chr16:80110668..80112262-chr16:80192001..80193923,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11150248	0.87[EUR][1000 genomes]
rs11150249	0.88[EUR][1000 genomes]
rs11643917	0.82[AFR][1000 genomes]
rs12102804	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716882	0.82[AFR][1000 genomes]
rs1382389	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16952546	0.82[ASN][1000 genomes]
rs1871209	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2169804	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2169806	0.94[ASW][hapmap];0.92[CEU][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28733382	0.82[ASN][1000 genomes]
rs4889112	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889115	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889116	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564744	0.94[ASW][hapmap];0.89[LWK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs7186149	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7189918	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7193651	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7205467	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8045772	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8045793	0.87[EUR][1000 genomes]
rs8047391	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8060188	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap]
rs8061813	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9673176	0.81[ASN][1000 genomes]
rs9673185	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9926605	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9930130	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9940589	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9944373	0.82[AFR][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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv15881	chr16:80191198-80193029	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8045952	VAT1L	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80186600-80192600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:80186600-80197600	Weak transcription	HSMMtube	muscle
3	chr16:80191200-80193600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:80191600-80193600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:80191800-80193400	Enhancers	Osteobl	bone
6	chr16:80191800-80193600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr16:80191800-80193600	Enhancers	NH-A	brain
8	chr16:80191800-80193800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:80192000-80193400	Enhancers	HMEC	breast
10	chr16:80192000-80193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:80192000-80193600	Enhancers	HUVEC	blood vessel
12	chr16:80192200-80193600	Enhancers	NHEK	skin
13	chr16:80192400-80193200	Enhancers	A549	lung
14	chr16:80192400-80193400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:80192400-80193600	Enhancers	HSMM	muscle

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