Variant report

Variant	rs11646481
Chromosome Location	chr16:64937249-64937250
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1025312	0.96[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10459793	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs11640810	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11647164	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11866839	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12708869	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.86[TSI][hapmap]
rs12922230	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12923516	0.91[ASN][1000 genomes]
rs12927264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12931546	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1520233	1.00[ASW][hapmap];0.82[MEX][hapmap]
rs1540412	0.93[ASN][1000 genomes]
rs1607696	0.83[ASN][1000 genomes]
rs16968039	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1845849	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs185393	0.85[CHB][hapmap]
rs1864147	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280394	0.96[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2331446	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35153	0.82[ASN][1000 genomes]
rs35181	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs35184	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs35186	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs35197	0.82[CHD][hapmap]
rs3760056	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3826240	0.83[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3891307	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4967877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4967879	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs973199	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9930786	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]

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	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv984501	chr16:64919797-64993897	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11646481	CMTM1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64927800-64941800	Weak transcription	Osteobl	bone
2	chr16:64931200-64943800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:64935000-64943800	Weak transcription	Fetal Lung	lung

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