Variant report

Variant	rs7847166
Chromosome Location	chr9:27137144-27137145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11788136	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12336187	0.85[AFR][1000 genomes]
rs12339162	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12352603	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12352631	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12551926	0.88[ASN][1000 genomes]
rs12554485	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16911083	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2027124	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35999900	0.86[AMR][1000 genomes]
rs36058681	0.81[AMR][1000 genomes]
rs36090003	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62544597	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6475959	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6475963	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6475966	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6475968	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs66704846	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs67294931	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs67322240	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs67667821	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7023335	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7023432	0.86[AMR][1000 genomes]
rs7023443	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7037509	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7040772	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7042003	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7043905	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7044842	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71510418	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7847161	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7847280	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7862613	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7862757	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7871178	0.86[AFR][1000 genomes]
rs7873019	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7873161	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7873329	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv613945	chr9:27121906-27148475	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7847166	TEK	cis	cerebellar cortex	BrainEAC

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27122800-27150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:27127200-27142400	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:27129800-27144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:27130200-27141200	Weak transcription	HUVEC	blood vessel
5	chr9:27131400-27143000	Weak transcription	Left Ventricle	heart
6	chr9:27133200-27142400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:27134000-27145200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:27136200-27138400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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