Variant report

Variant	rs12919417
Chromosome Location	chr16:71579711-71579712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10500562	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs12447033	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12922775	0.81[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12927006	0.85[AFR][1000 genomes]
rs12927768	1.00[CEU][hapmap]
rs12931191	0.81[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs17280181	1.00[YRI][hapmap]
rs17282500	0.81[AMR][1000 genomes]
rs17347255	0.81[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17356206	0.86[CEU][hapmap]
rs34181942	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34753286	0.81[EUR][1000 genomes]
rs34849731	0.86[AMR][1000 genomes]
rs35394108	0.80[AFR][1000 genomes]
rs7203606	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053720	0.90[MEX][hapmap]
rs8063455	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12919417	HSF4	cis	parietal	SCAN
rs12919417	CTRL	cis	cerebellum	SCAN
rs12919417	NRN1L	cis	parietal	SCAN
rs12919417	RP11-432I5.1	cis	Thyroid	GTEx
rs12919417	TPPP3	cis	cerebellum	SCAN
rs12919417	HP	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71560600-71583400	Weak transcription	Pancreas	Pancrea
2	chr16:71561000-71582400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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