Variant report

Variant	rs2893796
Chromosome Location	chr12:120051269-120051270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10732608	0.80[ASN][1000 genomes]
rs10744740	0.98[ASN][1000 genomes]
rs10744741	0.94[ASN][1000 genomes]
rs10744742	0.94[ASN][1000 genomes]
rs10774504	0.85[ASN][1000 genomes]
rs10774505	0.98[ASN][1000 genomes]
rs10774507	0.81[ASN][1000 genomes]
rs10774509	0.80[ASN][1000 genomes]
rs10849673	0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10849674	0.84[ASN][1000 genomes]
rs10849679	0.97[ASN][1000 genomes]
rs10849682	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849683	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849684	0.85[ASN][1000 genomes]
rs10849685	0.81[ASN][1000 genomes]
rs11064842	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064843	0.93[ASN][1000 genomes]
rs11064855	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064856	0.81[ASN][1000 genomes]
rs11064858	0.86[ASN][1000 genomes]
rs11064861	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11064864	0.80[ASN][1000 genomes]
rs1109856	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1154836	0.81[ASN][1000 genomes]
rs12579854	0.86[ASN][1000 genomes]
rs12582735	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.98[MKK][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12708371	0.94[ASN][1000 genomes]
rs12827937	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303904	0.94[ASN][1000 genomes]
rs1319529	0.81[ASN][1000 genomes]
rs1476453	0.98[ASN][1000 genomes]
rs1858982	0.81[ASN][1000 genomes]
rs2015795	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2078938	0.81[ASN][1000 genomes]
rs2157806	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301653	0.81[ASN][1000 genomes]
rs2301654	0.81[ASN][1000 genomes]
rs2301655	0.86[CHD][hapmap]
rs3847956	0.97[ASN][1000 genomes]
rs4766944	0.81[ASN][1000 genomes]
rs4766945	0.81[ASN][1000 genomes]
rs4767830	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4767831	0.86[ASN][1000 genomes]
rs4767832	0.98[ASN][1000 genomes]
rs4767833	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767834	0.81[ASN][1000 genomes]
rs4767835	0.80[ASN][1000 genomes]
rs6490260	0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs6490261	0.81[ASN][1000 genomes]
rs7138785	0.81[ASN][1000 genomes]
rs7295362	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7306273	0.98[ASN][1000 genomes]
rs7310741	0.96[ASN][1000 genomes]
rs7316295	0.90[ASN][1000 genomes]
rs739423	0.98[ASN][1000 genomes]
rs7954674	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7955433	0.86[ASN][1000 genomes]
rs7955441	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs7957284	0.95[ASN][1000 genomes]
rs7958547	0.81[ASN][1000 genomes]
rs7959425	0.80[ASN][1000 genomes]
rs7965791	0.94[ASN][1000 genomes]
rs7978341	0.95[ASN][1000 genomes]
rs7981024	0.95[ASN][1000 genomes]
rs9634174	0.88[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2893796	WSB2	cis	cerebellum	SCAN
rs2893796	TMEM233	cis	Thyroid	GTEx
rs2893796	FBXW8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120042400-120051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:120048600-120059600	Weak transcription	HSMMtube	muscle
3	chr12:120049200-120054000	Weak transcription	HSMM	muscle
4	chr12:120049800-120051600	Weak transcription	Psoas Muscle	Psoas
5	chr12:120050800-120053800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:120051200-120051400	Enhancers	HUVEC	blood vessel
7	chr12:120051200-120051600	Enhancers	HepG2	liver
8	chr12:120051200-120051800	Enhancers	Skeletal Muscle Female	skeletal muscle

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