Variant report

Variant	rs10773046
Chromosome Location	chr12:124375210-124375211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10773041	0.89[ASN][1000 genomes]
rs10773047	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846562	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10846564	0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846567	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846570	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10846571	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10846572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10846573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10846574	0.81[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10846575	0.81[ASN][1000 genomes]
rs10846576	0.86[ASN][1000 genomes]
rs11057381	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11057383	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11057388	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11057389	0.97[ASN][1000 genomes]
rs11057390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12306328	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12307524	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12309481	0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1317312	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1317386	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1882488	0.82[CEU][hapmap]
rs1882489	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1922258	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2341569	0.83[ASN][1000 genomes]
rs2341779	0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28435362	0.86[ASN][1000 genomes]
rs28528904	0.86[ASN][1000 genomes]
rs28654550	0.86[ASN][1000 genomes]
rs34587940	0.86[ASN][1000 genomes]
rs4390427	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930727	0.88[ASN][1000 genomes]
rs57078519	0.87[ASN][1000 genomes]
rs57316347	0.87[ASN][1000 genomes]
rs58411567	0.86[ASN][1000 genomes]
rs61587964	0.86[ASN][1000 genomes]
rs6488907	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6488910	0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7296123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7297429	0.93[ASN][1000 genomes]
rs7300037	0.90[ASN][1000 genomes]
rs7303634	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313897	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7314278	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs7314335	0.89[ASN][1000 genomes]
rs7959519	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7964324	0.85[ASN][1000 genomes]
rs7970597	0.86[ASN][1000 genomes]
rs7976319	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7977078	0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7977713	0.90[JPT][hapmap]
rs7978781	0.86[ASN][1000 genomes]
rs9669530	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Osteoarthritis (hip)	23989986	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10773046	CCDC92	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124373200-124377000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:124375000-124375400	Enhancers	Fetal Thymus	thymus
3	chr12:124375000-124375400	Bivalent Enhancer	Dnd41	blood
4	chr12:124375000-124375600	Enhancers	Liver	Liver
5	chr12:124375200-124375400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr12:124375200-124375400	Bivalent Enhancer	Placenta	Placenta
7	chr12:124375200-124375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:124375200-124376600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links