Variant report

Variant	rs11643917
Chromosome Location	chr16:80203882-80203883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11640831	0.91[ASN][1000 genomes]
rs12716882	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1382389	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16944269	0.81[EUR][1000 genomes]
rs1871209	0.88[AFR][1000 genomes]
rs1904186	0.91[ASN][1000 genomes]
rs2169804	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2169806	0.93[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4889112	0.86[AFR][1000 genomes]
rs4889115	0.82[AFR][1000 genomes]
rs4889116	0.87[ASN][1000 genomes]
rs62049508	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564744	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7186149	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7189918	0.92[AFR][1000 genomes]
rs7201276	0.91[ASN][1000 genomes]
rs7205467	0.82[AFR][1000 genomes]
rs8045952	0.82[AFR][1000 genomes]
rs8047391	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8060188	0.82[CHB][hapmap]
rs8061813	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9673185	0.90[AFR][1000 genomes]
rs9930130	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9935652	0.91[ASN][1000 genomes]
rs9939067	0.91[ASN][1000 genomes]
rs9940589	0.88[ASN][1000 genomes]
rs9944373	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11643917	C16orf46	cis	cerebellum	SCAN
rs11643917	CFDP1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:80199600-80207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80201600-80205200	Weak transcription	Fetal Kidney	kidney
4	chr16:80202400-80207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80202400-80207800	Weak transcription	HSMM	muscle

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