Variant report

Variant	rs12239750
Chromosome Location	chr1:215307646-215307647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10465699	1.00[AFR][1000 genomes]
rs10779638	0.89[ASN][1000 genomes]
rs11120491	0.96[AFR][1000 genomes]
rs11120493	0.98[AFR][1000 genomes]
rs11120505	1.00[AFR][1000 genomes]
rs12061587	0.84[ASN][1000 genomes]
rs12064019	1.00[AFR][1000 genomes]
rs12069528	0.84[ASN][1000 genomes]
rs12069967	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086417	0.98[AFR][1000 genomes]
rs12097685	0.82[AFR][1000 genomes]
rs17024306	0.98[AFR][1000 genomes]
rs41283140	0.85[ASN][1000 genomes]
rs4589083	0.89[ASN][1000 genomes]
rs55777551	1.00[AFR][1000 genomes]
rs55790910	0.95[ASN][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]
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]
rs74143657	0.98[AFR][1000 genomes]
rs7535436	0.89[ASN][1000 genomes]
rs7551562	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
rs12239750	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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links