Variant report

Variant	rs10948280
Chromosome Location	chr6:46073621-46073622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1048079	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1076736	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs1076737	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs11754760	0.87[AFR][1000 genomes]
rs11756160	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758852	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12196107	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12215921	0.81[AFR][1000 genomes]
rs12665453	0.87[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13210366	0.87[AFR][1000 genomes]
rs2006030	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2022422	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2022423	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143746	0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2143747	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2179757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179760	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2179991	0.84[CEU][hapmap]
rs2206967	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2206968	0.81[AFR][1000 genomes]
rs2223777	0.84[AFR][1000 genomes]
rs2223778	0.84[AFR][1000 genomes]
rs2295016	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2295017	1.00[ASW][hapmap];0.87[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2295018	1.00[ASW][hapmap];0.87[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3756801	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3756802	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3756803	0.84[AFR][1000 genomes]
rs3891763	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6458488	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6458489	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6458490	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs6458491	0.81[AFR][1000 genomes]
rs6458492	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6902187	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921870	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933669	0.80[CEU][hapmap]
rs6940977	0.87[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6941587	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71566566	0.83[AFR][1000 genomes]
rs7356841	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7356846	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7357078	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7451713	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7740398	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs7744030	0.88[CEU][hapmap]
rs7745824	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7758638	0.84[CEU][hapmap]
rs7760123	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773230	0.83[AFR][1000 genomes]
rs7775082	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8180644	0.84[AFR][1000 genomes]
rs872859	0.81[AFR][1000 genomes]
rs910179	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9349345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9357500	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9357502	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9367234	0.84[AFR][1000 genomes]
rs9369599	0.84[AFR][1000 genomes]
rs9369601	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381421	0.92[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9395155	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9395158	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs9463184	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9472683	0.84[CEU][hapmap]
rs9472684	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9472688	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472689	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9472690	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9472692	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9472698	0.81[AFR][1000 genomes]
rs9472699	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9472705	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9472714	0.87[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs9763	0.87[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs995564	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10948280	ENPP5	cis	cerebellum	SCAN
rs10948280	TBCC	cis	parietal	SCAN
rs10948280	ENPP4	cis	parietal	SCAN
rs10948280	ENPP5	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46063000-46080800	Weak transcription	Primary T cells from cord blood	blood
2	chr6:46066800-46076800	Weak transcription	Pancreas	Pancrea
3	chr6:46071000-46073800	Enhancers	GM12878-XiMat	blood
4	chr6:46071400-46073800	Active TSS	Fetal Muscle Trunk	muscle
5	chr6:46071600-46086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:46073400-46074000	Enhancers	Psoas Muscle	Psoas
7	chr6:46073400-46074200	Enhancers	Fetal Muscle Leg	muscle
8	chr6:46073600-46073800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:46073600-46073800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:46073600-46073800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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