Variant report

Variant	rs693712
Chromosome Location	chr6:132330862-132330863
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	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11154662	0.81[EUR][1000 genomes]
rs1206719	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206726	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1206729	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206731	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206732	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206733	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206734	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12199097	0.84[ASN][1000 genomes]
rs13437472	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs170881	0.84[ASN][1000 genomes]
rs173055	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1930999	0.80[ASN][1000 genomes]
rs2223259	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233907	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233909	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233910	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233912	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233914	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233915	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233916	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233918	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233920	0.82[ASN][1000 genomes]
rs233921	0.84[ASN][1000 genomes]
rs233922	0.84[ASN][1000 genomes]
rs233924	0.84[ASN][1000 genomes]
rs233926	0.84[ASN][1000 genomes]
rs233927	0.82[ASN][1000 genomes]
rs233933	0.87[ASN][1000 genomes]
rs233935	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs233936	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs233939	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233942	0.82[ASN][1000 genomes]
rs233943	0.84[ASN][1000 genomes]
rs233945	0.84[ASN][1000 genomes]
rs403374	0.87[ASN][1000 genomes]
rs412319	0.87[ASN][1000 genomes]
rs440883	0.87[ASN][1000 genomes]
rs4895927	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6569773	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6918708	0.80[AMR][1000 genomes]
rs6935514	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6939234	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9321322	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9321323	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs693712	ENPP3	cis	hippocampus	BrainEAC

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132326800-132332000	Weak transcription	Aorta	Aorta
2	chr6:132329200-132332800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:132329200-132332800	Weak transcription	Osteobl	bone
4	chr6:132329400-132331200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:132329400-132332200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:132329400-132332400	Weak transcription	NHDF-Ad	bronchial
7	chr6:132330400-132331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:132330400-132333600	Enhancers	HepG2	liver
9	chr6:132330600-132333000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:132330800-132331200	Enhancers	Right Atrium	heart
11	chr6:132330800-132331600	Enhancers	Stomach Mucosa	stomach
12	chr6:132330800-132331600	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:132330800-132332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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