Variant report

Variant	rs12531630
Chromosome Location	chr7:147098651-147098652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10500176	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10500181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs10500184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10500186	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11974837	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11981369	0.85[CHB][hapmap];0.85[CHD][hapmap];0.86[MEX][hapmap]
rs11981922	0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap]
rs12113127	0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap]
rs12155219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530837	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[MEX][hapmap]
rs12531159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12531963	0.85[CHB][hapmap]
rs12532315	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536060	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap]
rs12536085	0.88[JPT][hapmap]
rs12536336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12538269	0.94[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12539907	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12703904	0.88[JPT][hapmap]
rs12703905	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12703906	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs13229513	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13238010	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs13238589	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13238822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13245441	0.80[JPT][hapmap]
rs1404700	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1404701	0.84[ASN][1000 genomes]
rs1404702	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1525218	0.82[CHD][hapmap]
rs1528514	0.83[CHD][hapmap]
rs1528529	0.85[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.87[ASN][1000 genomes]
rs16883356	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17170415	0.81[CHB][hapmap]
rs17170498	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1871491	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373130	0.85[CHB][hapmap]
rs34784405	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4142824	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4621717	0.85[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.88[ASN][1000 genomes]
rs4725719	0.80[CHD][hapmap]
rs4726841	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4726843	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4726845	0.88[JPT][hapmap]
rs4726849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap]
rs4726850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs4726851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4726852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs62481222	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945022	0.85[CHD][hapmap]
rs6945513	0.89[JPT][hapmap]
rs6945627	0.85[CHB][hapmap]
rs6952525	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6954016	0.85[JPT][hapmap]
rs6954639	0.83[JPT][hapmap]
rs6964021	0.84[CHD][hapmap]
rs6968564	0.82[CEU][hapmap]
rs6972649	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs6973370	0.89[JPT][hapmap]
rs6973542	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs6976677	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6977497	0.85[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap]
rs6977507	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6977519	0.81[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap]
rs6977702	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs721123	0.81[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap]
rs721124	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs729565	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs73158357	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7458418	0.90[CHB][hapmap]
rs747139	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs747140	0.89[JPT][hapmap]
rs7783311	0.84[CHB][hapmap]
rs7791755	0.83[JPT][hapmap]
rs899617	0.83[CHD][hapmap];0.88[JPT][hapmap]
rs899619	0.87[JPT][hapmap]
rs899621	0.81[JPT][hapmap]
rs917127	0.85[CHB][hapmap]
rs9648846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931005	chr7:146730472-147381257	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1033398	chr7:146989035-147101573	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12531630	LRRC61	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147095400-147120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147097800-147107600	Weak transcription	NHDF-Ad	bronchial
3	chr7:147098000-147098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:147098200-147098800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:147098200-147098800	Enhancers	Osteobl	bone
6	chr7:147098400-147099000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:147098400-147103600	Weak transcription	HSMMtube	muscle
8	chr7:147098600-147103200	Weak transcription	Muscle Satellite Cultured Cells	--

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