Variant report

Variant	rs1317386
Chromosome Location	chr12:124373678-124373679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10773041	0.90[ASN][1000 genomes]
rs10773043	0.80[EUR][1000 genomes]
rs10773046	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]
rs10773047	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846562	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs10846564	1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10846567	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10846570	0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10846571	0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10846572	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10846573	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10846574	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846576	0.82[ASN][1000 genomes]
rs11057381	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057383	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11057388	0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11057389	0.93[ASN][1000 genomes]
rs11057390	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12228611	0.81[EUR][1000 genomes]
rs12306328	0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12307524	0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12309481	0.87[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1317312	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs1882488	0.82[CEU][hapmap]
rs1882489	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1922258	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2341779	1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs28435362	0.82[ASN][1000 genomes]
rs28528904	0.82[ASN][1000 genomes]
rs28654550	0.82[ASN][1000 genomes]
rs34587940	0.82[ASN][1000 genomes]
rs4390427	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930727	0.89[ASN][1000 genomes]
rs57078519	0.83[ASN][1000 genomes]
rs57316347	0.83[ASN][1000 genomes]
rs58411567	0.82[ASN][1000 genomes]
rs61587964	0.82[ASN][1000 genomes]
rs6488907	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6488910	0.84[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7296123	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7297429	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300037	0.91[ASN][1000 genomes]
rs7303634	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7313897	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7314278	0.88[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7314335	0.90[ASN][1000 genomes]
rs7314963	0.80[EUR][1000 genomes]
rs7959519	1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7964324	0.82[ASN][1000 genomes]
rs7970597	0.82[ASN][1000 genomes]
rs7976319	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7977078	0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7977713	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7978781	0.82[ASN][1000 genomes]
rs9669530	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[EUR][1000 genomes];0.93[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1317386	CCDC92	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124371800-124375000	Weak transcription	Fetal Thymus	thymus
2	chr12:124372000-124374000	Weak transcription	Gastric	stomach
3	chr12:124373200-124374400	Enhancers	Fetal Brain Female	brain
4	chr12:124373200-124377000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:124373600-124374000	Bivalent Enhancer	Placenta	Placenta

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