Variant report

Variant	rs12069967
Chromosome Location	chr1:215308465-215308466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1015244	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10158967	0.85[YRI][hapmap]
rs10429947	1.00[CEU][hapmap]
rs10465699	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10779638	0.89[ASN][1000 genomes]
rs11120491	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11120493	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11120505	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12060322	0.93[YRI][hapmap]
rs12061587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12064019	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12069528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs12086417	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12097685	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12121815	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12239750	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339403	0.86[YRI][hapmap]
rs1339409	1.00[CHB][hapmap]
rs1538546	1.00[CHB][hapmap]
rs17024306	0.98[AFR][1000 genomes]
rs17024342	0.83[MKK][hapmap];0.86[YRI][hapmap]
rs1947364	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2363553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2802656	1.00[JPT][hapmap]
rs41283140	0.85[ASN][1000 genomes]
rs4433363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4573492	1.00[CHB][hapmap]
rs4589083	0.89[ASN][1000 genomes]
rs55777551	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55790910	0.95[ASN][1000 genomes]
rs55804708	0.81[AMR][1000 genomes]
rs55922125	0.84[ASN][1000 genomes]
rs56036238	0.84[ASN][1000 genomes]
rs56053976	1.00[ASN][1000 genomes]
rs56233922	0.95[ASN][1000 genomes]
rs56274886	0.84[ASN][1000 genomes]
rs56373924	1.00[ASN][1000 genomes]
rs56373932	0.85[ASN][1000 genomes]
rs59564038	0.81[AMR][1000 genomes]
rs59581685	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818265	0.84[ASN][1000 genomes]
rs61818266	0.84[ASN][1000 genomes]
rs61818267	0.84[ASN][1000 genomes]
rs61818268	0.84[ASN][1000 genomes]
rs61818271	0.84[ASN][1000 genomes]
rs61818272	0.84[ASN][1000 genomes]
rs61818276	0.84[ASN][1000 genomes]
rs61818277	0.84[ASN][1000 genomes]
rs61818278	0.84[ASN][1000 genomes]
rs61818279	0.84[ASN][1000 genomes]
rs61818290	0.84[ASN][1000 genomes]
rs61818295	0.84[ASN][1000 genomes]
rs61818296	0.89[ASN][1000 genomes]
rs61818298	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61818301	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61818303	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61818304	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818307	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818308	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818309	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818310	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818311	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818319	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818321	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818323	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818324	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818325	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818326	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818327	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818329	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818331	1.00[ASN][1000 genomes]
rs61818338	0.95[ASN][1000 genomes]
rs61818340	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61818341	0.95[ASN][1000 genomes]
rs61818342	0.95[ASN][1000 genomes]
rs61818343	0.95[ASN][1000 genomes]
rs61818346	0.95[ASN][1000 genomes]
rs61818347	0.84[ASN][1000 genomes]
rs61818348	0.84[ASN][1000 genomes]
rs61818351	0.84[ASN][1000 genomes]
rs6656675	1.00[MEX][hapmap]
rs6665177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs74140931	0.81[AMR][1000 genomes]
rs74140935	0.81[AMR][1000 genomes]
rs74143657	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7530450	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7535436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7551562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12069967	C9orf16	trans	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215305800-215314600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:215306000-215313600	Weak transcription	Osteobl	bone
3	chr1:215307200-215313600	Weak transcription	NHDF-Ad	bronchial
4	chr1:215307400-215315000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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