Variant report

Variant	rs10849682
Chromosome Location	chr12:120060130-120060131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10732608	0.83[ASN][1000 genomes]
rs10744740	0.94[ASN][1000 genomes]
rs10744741	0.97[ASN][1000 genomes]
rs10744742	0.97[ASN][1000 genomes]
rs10774504	0.81[ASN][1000 genomes]
rs10774505	0.94[ASN][1000 genomes]
rs10774507	0.83[ASN][1000 genomes]
rs10774509	0.83[ASN][1000 genomes]
rs10849673	0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10849674	0.80[ASN][1000 genomes]
rs10849679	0.92[ASN][1000 genomes]
rs10849683	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849684	0.88[ASN][1000 genomes]
rs10849685	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11064842	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11064843	0.89[ASN][1000 genomes]
rs11064855	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064856	0.83[ASN][1000 genomes]
rs11064858	0.88[ASN][1000 genomes]
rs11064861	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11064864	0.83[ASN][1000 genomes]
rs1109856	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1154836	0.83[ASN][1000 genomes]
rs12579854	0.82[ASN][1000 genomes]
rs12582735	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.96[MKK][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12708371	0.97[ASN][1000 genomes]
rs12827937	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1303904	0.97[ASN][1000 genomes]
rs1319529	0.83[ASN][1000 genomes]
rs1476453	0.94[ASN][1000 genomes]
rs1858982	0.83[ASN][1000 genomes]
rs2015795	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2078938	0.83[ASN][1000 genomes]
rs2157806	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301653	0.83[ASN][1000 genomes]
rs2301654	0.83[ASN][1000 genomes]
rs2301655	0.88[CHD][hapmap]
rs2893796	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2893805	0.80[ASN][1000 genomes]
rs3847956	0.93[ASN][1000 genomes]
rs4766944	0.83[ASN][1000 genomes]
rs4766945	0.83[ASN][1000 genomes]
rs4767830	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4767831	0.82[ASN][1000 genomes]
rs4767832	0.94[ASN][1000 genomes]
rs4767833	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767834	0.83[ASN][1000 genomes]
rs4767835	0.83[ASN][1000 genomes]
rs6490260	0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs6490261	0.83[ASN][1000 genomes]
rs7138785	0.83[ASN][1000 genomes]
rs7295362	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7306273	0.94[ASN][1000 genomes]
rs7310741	0.96[ASN][1000 genomes]
rs7316295	0.91[ASN][1000 genomes]
rs739423	0.94[ASN][1000 genomes]
rs7954674	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7955433	0.82[ASN][1000 genomes]
rs7955441	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs7957284	0.96[ASN][1000 genomes]
rs7958547	0.83[ASN][1000 genomes]
rs7959425	0.83[ASN][1000 genomes]
rs7965791	0.97[ASN][1000 genomes]
rs7978341	0.96[ASN][1000 genomes]
rs7981024	0.96[ASN][1000 genomes]
rs9634174	0.84[MEX][hapmap]

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	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10849682	WSB2	cis	cerebellum	SCAN
rs10849682	FBXW8	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120056400-120064400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:120056800-120064600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:120058200-120061000	Strong transcription	Psoas Muscle	Psoas
4	chr12:120058400-120060600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:120059200-120060200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:120059200-120083400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:120059400-120060200	Enhancers	Liver	Liver
8	chr12:120059600-120060200	Enhancers	HSMMtube	muscle
9	chr12:120059600-120060200	Enhancers	Osteobl	bone
10	chr12:120059600-120062800	Weak transcription	Ovary	ovary
11	chr12:120059800-120061000	Enhancers	Fetal Stomach	stomach
12	chr12:120060000-120060200	Weak transcription	HSMM	muscle
13	chr12:120060000-120060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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